LOCUS       NM_001378457           10596 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens Dmx like 2 (DMXL2), transcript variant 4, mRNA.
ACCESSION   NM_001378457 XM_005254255
VERSION     NM_001378457.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10596)
  AUTHORS   Wonkam-Tingang,E., Schrauwen,I., Esoh,K.K., Bharadwaj,T.,
            Nouel-Saied,L.M., Acharya,A., Nasir,A., Leal,S.M. and Wonkam,A.
  TITLE     A novel variant in DMXL2 gene is associated with autosomal dominant
            non-syndromic hearing impairment (DFNA71) in a Cameroonian family
  JOURNAL   Exp Biol Med (Maywood) 246 (13), 1524-1532 (2021)
   PUBMED   33715530
  REMARK    GeneRIF: A novel variant in DMXL2 gene is associated with autosomal
            dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian
            family.
            Erratum:[Exp Biol Med (Maywood). 2021 Nov;246(21):NP5. doi:
            10.1177/15353702211040362.. PMID: 34749523]
REFERENCE   2  (bases 1 to 10596)
  AUTHORS   Esposito,A., Falace,A., Wagner,M., Gal,M., Mei,D., Conti,V.,
            Pisano,T., Aprile,D., Cerullo,M.S., De Fusco,A., Giovedi,S.,
            Seibt,A., Magen,D., Polster,T., Eran,A., Stenton,S.L., Fiorillo,C.,
            Ravid,S., Mayatepek,E., Hafner,H., Wortmann,S., Levanon,E.Y.,
            Marini,C., Mandel,H., Benfenati,F., Distelmaier,F., Fassio,A. and
            Guerrini,R.
  TITLE     Biallelic DMXL2 mutations impair autophagy and cause Ohtahara
            syndrome with progressive course
  JOURNAL   Brain 142 (12), 3876-3891 (2019)
   PUBMED   31688942
  REMARK    GeneRIF: Impaired lysosomal function and autophagy caused by
            biallelic DMXL2 mutations affect neuronal development and synapse
            formation and result in Ohtahara syndrome with profound
            developmental impairment and reduced life expectancy.
            Erratum:[Brain. 2020 Feb 1;143(2):e16. doi: 10.1093/brain/awz397..
            PMID: 31840736]
REFERENCE   3  (bases 1 to 10596)
  AUTHORS   Costain,G., Walker,S., Argiropoulos,B., Baribeau,D.A.,
            Bassett,A.S., Boot,E., Devriendt,K., Kellam,B., Marshall,C.R.,
            Prasad,A., Serrano,M.A., Stavropoulos,D.J., Twede,H.,
            Vermeesch,J.R., Vorstman,J.A.S. and Scherer,S.W.
  TITLE     Rare copy number variations affecting the synaptic gene DMXL2 in
            neurodevelopmental disorders
  JOURNAL   J Neurodev Disord 11 (1), 3 (2019)
   PUBMED   30732576
  REMARK    GeneRIF: Disruption of DMXL2 may predispose to NDDs including
            autism spectrum disorder.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 10596)
  AUTHORS   Chen,D.Y., Liu,X.F., Lin,X.J., Zhang,D., Chai,Y.C., Yu,D.H.,
            Sun,C.L., Wang,X.L., Zhu,W.D., Chen,Y., Sun,L.H., Wang,X.W.,
            Shi,F.X., Huang,Z.W., Yang,T. and Wu,H.
  TITLE     A dominant variant in DMXL2 is linked to nonsyndromic hearing loss
  JOURNAL   Genet Med 19 (5), 553-558 (2017)
   PUBMED   27657680
  REMARK    GeneRIF: Data indicated that the p.Arg2417His variant in DMXL2 is
            associated with dominant, nonsyndromic hearing loss and suggested
            an important role of DMXL2 in inner ear function.
REFERENCE   5  (bases 1 to 10596)
  AUTHORS   Faronato,M., Nguyen,V.T., Patten,D.K., Lombardo,Y., Steel,J.H.,
            Patel,N., Woodley,L., Shousha,S., Pruneri,G., Coombes,R.C. and
            Magnani,L.
  TITLE     DMXL2 drives epithelial to mesenchymal transition in hormonal
            therapy resistant breast cancer through Notch hyper-activation
  JOURNAL   Oncotarget 6 (26), 22467-22479 (2015)
   PUBMED   26093085
  REMARK    GeneRIF: authors demonstrate that DMXL2 is a transmembrane protein
            with a potential extra-cellular domain. These findings identify
            DMXL2 as a novel, functional biomarker for ERalpha positive breast
            cancer.
REFERENCE   6  (bases 1 to 10596)
  AUTHORS   Tata,B., Huijbregts,L., Jacquier,S., Csaba,Z., Genin,E., Meyer,V.,
            Leka,S., Dupont,J., Charles,P., Chevenne,D., Carel,J.C., Leger,J.
            and de Roux,N.
  TITLE     Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes
            infertility associated with a loss of GnRH neurons in mouse
  JOURNAL   PLoS Biol 12 (9), e1001952 (2014)
   PUBMED   25248098
  REMARK    GeneRIF: Haploinsufficiency of Dmxl2, encoding a synaptic protein,
            causes infertility associated with a loss of GnRH neurons in humans
            and mice.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 10596)
  AUTHORS   Bohm,D., Keller,K., Pieter,J., Boehm,N., Wolters,D., Siggelkow,W.,
            Lebrecht,A., Schmidt,M., Kolbl,H., Pfeiffer,N. and Grus,F.H.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
REFERENCE   8  (bases 1 to 10596)
  AUTHORS   Sethi,N., Yan,Y., Quek,D., Schupbach,T. and Kang,Y.
  TITLE     Rabconnectin-3 is a functional regulator of mammalian Notch
            signaling
  JOURNAL   J Biol Chem 285 (45), 34757-34764 (2010)
   PUBMED   20810660
  REMARK    GeneRIF: an important role for Rabconnectin-3 and V-ATPase activity
            in the Notch signaling pathway in mammalian cells.
REFERENCE   9  (bases 1 to 10596)
  AUTHORS   Luke,M.M., O'Meara,E.S., Rowland,C.M., Shiffman,D., Bare,L.A.,
            Arellano,A.R., Longstreth,W.T. Jr., Lumley,T., Rice,K., Tracy,R.P.,
            Devlin,J.J. and Psaty,B.M.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 10596)
  AUTHORS   Nagano,F., Kawabe,H., Nakanishi,H., Shinohara,M.,
            Deguchi-Tawarada,M., Takeuchi,M., Sasaki,T. and Takai,Y.
  TITLE     Rabconnectin-3, a novel protein that binds both GDP/GTP exchange
            protein and GTPase-activating protein for Rab3 small G protein
            family
  JOURNAL   J Biol Chem 277 (12), 9629-9632 (2002)
   PUBMED   11809763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020892.7 and AC066613.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 14, 2020 this sequence version replaced XM_005254255.1.
            
            Summary: This gene encodes a protein with 12 WD domains. Proteins
            with WD domains are involved in many functions including
            participation in signal transduction pathways. Participation of the
            encoded protein in regulation of the Notch signaling pathway has
            been demonstrated in vitro using several human cell lines
            (PMID:20810660). A gene encoding a similar protein is located on
            chromosome 5. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Aug
            2011].
            
            Transcript Variant: This variant (4) represents the longest
            transcript and encodes the longest isoform (4).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3077244.1,
                                           SRR14038192.2693553.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000560891.6/ ENSP00000453267.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-313               AC020892.7         86846-87158         c
            314-439             AC020892.7         40443-40568         c
            440-511             AC020892.7         32874-32945         c
            512-590             AC020892.7         29475-29553         c
            591-726             AC020892.7         28512-28647         c
            727-793             AC020892.7         27768-27834         c
            794-972             AC020892.7         11617-11795         c
            973-1156            AC020892.7         9970-10153          c
            1157-1331           AC020892.7         6720-6894           c
            1332-1571           AC020892.7         2600-2839           c
            1572-1843           AC066613.7         168423-168694       c
            1844-2540           AC066613.7         167101-167797       c
            2541-2662           AC066613.7         166598-166719       c
            2663-2752           AC066613.7         148013-148102       c
            2753-2870           AC066613.7         145377-145494       c
            2871-2990           AC066613.7         138069-138188       c
            2991-3218           AC066613.7         133741-133968       c
            3219-4898           AC066613.7         129487-131166       c
            4899-5009           AC066613.7         125959-126069       c
            5010-5179           AC066613.7         122513-122682       c
            5180-5277           AC066613.7         119483-119580       c
            5278-5443           AC066613.7         118889-119054       c
            5444-5708           AC066613.7         117008-117272       c
            5709-6790           AC066613.7         111477-112558       c
            6791-6982           AC066613.7         110883-111074       c
            6983-7059           AC066613.7         109206-109282       c
            7060-7190           AC066613.7         107524-107654       c
            7191-7439           AC066613.7         105279-105527       c
            7440-7618           AC066613.7         102158-102336       c
            7619-7746           AC066613.7         97119-97246         c
            7747-7832           AC066613.7         96501-96586         c
            7833-8034           AC066613.7         95610-95811         c
            8035-8152           AC066613.7         94314-94431         c
            8153-8215           AC066613.7         90533-90595         c
            8216-8302           AC066613.7         89644-89730         c
            8303-8424           AC066613.7         89441-89562         c
            8425-8563           AC066613.7         88263-88401         c
            8564-8624           AC066613.7         87244-87304         c
            8625-8752           AC066613.7         87001-87128         c
            8753-8830           AC066613.7         86086-86163         c
            8831-8922           AC066613.7         84485-84576         c
            8923-8975           AC066613.7         82580-82632         c
            8976-9193           AC066613.7         81064-81281         c
            9194-10596          AC066613.7         78726-80128         c
FEATURES             Location/Qualifiers
     source          1..10596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     gene            1..10596
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /note="Dmx like 2"
                     /db_xref="GeneID:23312"
                     /db_xref="HGNC:HGNC:2938"
                     /db_xref="MIM:612186"
     exon            1..313
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..9403
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /note="isoform 4 is encoded by transcript variant 4;
                     rabconnectin-3; dmX-like protein 2"
                     /codon_start=1
                     /product="dmX-like protein 2 isoform 4"
                     /protein_id="NP_001365386.1"
                     /db_xref="CCDS:CCDS91998.1"
                     /db_xref="GeneID:23312"
                     /db_xref="HGNC:HGNC:2938"
                     /db_xref="MIM:612186"
                     /translation="MHLHQVLTGAVNPGDNCYSVGSVGDVPFTAYGSGCDIVILANDF
                     ECVQIIPGAKHGNIQVSCVECSNQQGRIAASYGNAVCIFEPLGINSHKRNCQLKCQWL
                     KTGQFFLSSVTYNLAWDPQDNRLLTATDSIQLWAPPGDDILEEEEEIDNTVPPVLNDW
                     KCVWQCKTSVSVHLMEWSPDGEYFATAGKDDCLLKVWYPMTGWKSSIIPQDHHEVKRR
                     QSSTQFSFVYLAHPRAVTGFSWRKTSKYMPRGSVCNVLLTSCHDGVCRLWAETLLPED
                     CLLGEQICETTTSSIASSLSHAGRHKDRIQHALETIHHLKNLRKGQRRSSVLVTHAEL
                     MPDQTAMHEVQRHISHHANALCHFHIAASINPATDIPNVLVGTAFNVDDGNGGFVVHW
                     LNNKEFHFTSSTEVFMHQLRKLSDKQVDHENDDADREDEEHSQEDRERGLHMKLDHDL
                     SLDRESEAGTGSSEHEDGEREGSPRTYSRLSVPMPLPTVLLDRKIETLLTEWNKNPDM
                     LFTIHPVDGTFLVWHVKYLDEYNPGIFRQVQVSFSSRIPVAFPSGDASSLSKNIMMYA
                     CINATKDSHHTLLHQEGMSVGSPHGSQPHSRSHSTHMNILAPTVMMISKHIDGSLNQW
                     AVTFADKSAFTTVLTVSHKFRYCGHRFHLNDLACHSVLPLLLTSSHHNALLTPELDCQ
                     WDSDNKLSRLMDPVKHIKGSSKQPLRNAATRTFHDPNAIYSELILWRVDPIGPLSYTG
                     GVSELARINSLHTSAFSNVAWLPTLIPSYCLGTYCNSASACFVASDGKNLRLYQAVVD
                     ARKLLDELSDPESSKLIGEVFNIVSQQSTARPGCIIELDAITNQCGSNTQLLHVFQED
                     FIIGYKPHKEDMEKKETEIFFQPSQGYRPPPFSEKFFLVVIEKDSNNNSILHMWHLHL
                     KSVQACLAKASEGASSESLLSVPGQKNVDSSPETSPSVSPMPHSSSIANLQTASKLIL
                     SSRLVYSQPLDLPESVEVIRATPSAGHLSSSSIYPVCLAPYLVVTTCSDNKVRFWKCC
                     MEANPECNKSDEKEIYHWKRWPLMNDEGEDNSSTVSIVGRPVAVSCSYTGRLAVAYKQ
                     PIHHNGFVSKEFSMHVCIFECESTGGSEWVLEQTIHLDDLVKVGSVLDSRVSVDSNLF
                     VYSKSDALLSKDRYLIPNIKHLVHLDWVSKEDGSHILTVGVGANIFMYGRLSGIVTEQ
                     TNSKDGVAVITLPLGGSIKQGVKSRWVLLRSIDLVSSVDGTPSLPVSLSWVRDGILVV
                     GMDCEMHVYAQWKHAVKFGDTEADSSNAEEAAMQDHSTFKSNMLARKSVVEGTAISDD
                     VFCSPTVIQDGGLFEAAHVLSPTLPQYHPTQLLELMDLGKVRRAKAILSHLVKCIAGE
                     VAIVRDPDAGEGTKRHLSRTISVSGSTAKETVTVGKDGTRDYTEIDSIPPLPLYALLA
                     ADQDTSYRISEESTKIPQSYEDQTVSQPEDQYSELFQIQDIPTDDIDLEPEKRENKSK
                     VINLSQYGPAYFGQEHARVLSSHLMHSSLPGLTRLEQMFLVALADTVATTSTELDESR
                     DKSCSGRDTLDECGLRYLLAMRLHTCLLTSLPPLYRVQLLHQGVSTCHFAWAFHSEAE
                     EELINMIPAIQRGDPQWSELRAMGIGWWVRNINTLRRCIEKVAKASFQRNNDALDAAL
                     FYLSMKKKAVVWGLFRSQHDEKMTTFFSHNFNEDRWRKAALKNAFSLLGKQRFEQSAA
                     FFLLAGSLKDAIEVCLEKMEDIQLAMVIARLYESEFETSSTYISILNQKILGCQKDGS
                     GFSCKRLHPDPFLRSLAYWVMKDYTRALDTLLEQTPKEDDEHQVIIKSCNPVAFSFYN
                     YLRTHPLLIRRNLASPEGTLATLGLKTEKNFVDKINLIERKLFFTTANAHFKVGCPVL
                     ALEVLSKIPKVTKTSALSAKKDQPDFISHRMDDVPSHSKALSDGNGSSGIEWSNVTSS
                     QYDWSQPIVKVDEEPLNLDWGEDHDSALDEEEDDAVGLVMKSTDAREKDKQSDQKASD
                     PNMLLTPQEEDDPEGDTEVDVIAEQLKFRACLKILMTELRTLATGYEVDGGKLRFQLY
                     NWLEKEIAALHEICNHESVIKEYSSKTYSKVESDLLDQEEMVDKPDIGSYERHQIERR
                     RLQAKREHAERRKSWLQKNQDLLRVFLSYCSLHGAQGGGLASVRMELKFLLQESQQET
                     TVKQLQSPLPLPTTLPLLSASIASTKTVIANPVLYLNNHIHDILYTIVQMKTPPHPSI
                     EDVKVHTLHSLAASLSASIYQALCDSHSYSSQTEGNQFTGMAYQGLLLSDRRRLRTES
                     IEEHATPNSSPAQWPGVSSLINLLSSAQDEDQPKLNILLCEAVVAVYLSLLIHALATN
                     SSSELFRLAAHPLNNRMWAAVFGGGVKLVVKPRRQSENISAPPVLSEDIDKHRRRFNM
                     RMLVPGRPVKDATPPPVPAERPSYKEKFIPPELSMWDYFVAKPFLPLSDSGVIYDSDE
                     SIHSDEEDDAFFSDTQIQEHQDPNSYSWALLHLTMVKLALHNVKNFFPIAGLEFSELP
                     VTSPLGIAVIKNLENWEQILQEKMDQFEGPPPNYINTYPTDLSVGAGPAILRNKAMLE
                     PENTPFKSRDSSAFPVKRLWHFLVKQEVLQETFIRYIFTKKRKQSESIEEHVEQVNQN
                     CIAEDCHIKVEADLGYPGGKAKVIHKESDMIMAFSVNKANCNEIVLASTHDVQELDVT
                     SLLACQSYIWIGEEYDRESKSSDDVDYRGSTTTLYQPSATSYSASQVHPPSSLPWLGT
                     GQTSTGASVLMKRNLHNVKRMTSHPVHQYYLTGAQDGSVRMFEWTRPQQLVCFRQAGN
                     ARVTRLYFNSQGNKCGVADGEGFLSIWQVNQTASNPKPYMSWQCHSKATSDFAFITSS
                     SLVATSGHSNDNRNVCLWDTLISPGNSLIHGFTCHDHGATVLQYAPKQQLLISGGRKG
                     HVCIFDIRQRQLIHTFQAHDSAIKALALDPYEEYFTTGSAEGNIKVWRLTGHGLIHSF
                     KSEHAKQSIFRNIGAGVMQIDIIQGNRLFSCGADGTLKTRVLPNAFNIPNRILDIL"
     exon            314..439
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            440..511
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            512..590
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            591..726
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            727..793
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            794..972
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1156
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1331
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1571
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1843
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1844..2540
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            2541..2662
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            2663..2752
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            2753..2870
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            2871..2990
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            2991..3218
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            3219..4898
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            4899..5009
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            5010..5179
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            5180..5277
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            5278..5443
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            5444..5708
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            5709..6790
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            6791..6982
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            6983..7059
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            7060..7190
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            7191..7439
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            7440..7618
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            7619..7746
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            7747..7832
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            7833..8034
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8035..8152
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8153..8215
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8216..8302
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8303..8424
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8425..8563
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8564..8624
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8625..8752
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8753..8830
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8831..8922
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8923..8975
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            8976..9193
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     exon            9194..10596
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      10577..10582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /note="hexamer: AATAAA"
     polyA_site      10596
                     /gene="DMXL2"
                     /gene_synonym="DEE81; DFNA71; EIEE81; PEPNS; RC3"
                     /note="major polyA site"
ORIGIN      
        1 atttccgcag ctgagcggcg acccgggcgg cggcggcggt cgaggagctc ccatggcagg
       61 gacgaggcgg agggaaggcg aaaggggggc gaggagttaa gccagagcct ccgcggggcg
      121 ggtttccgag ggaggcacag agggaaacgg ctctcgcagc ccgaggaggg tcaggcgcgg
      181 agcttgtcgc acctcccgcg cattctgtcc agcccgggct ccggagatgc atctgcatca
      241 ggtcctcacc ggagctgtca accctggaga caactgctac tccgtgggca gcgtcgggga
      301 tgtccccttc acggcatatg gatcaggctg tgatattgtt attttggcaa atgactttga
      361 atgtgtacag atcattcctg gtgctaagca tggaaacatc caagtcagct gtgtggagtg
      421 ttctaaccaa caaggaagaa ttgcagcttc atatggtaat gctgtttgta tatttgagcc
      481 cttgggcata aattctcata aaagaaattg tcaactcaag tgccagtggc ttaaaactgg
      541 gcagtttttt ttgagttctg tgacatacaa cttagcatgg gatcctcaag ataatagatt
      601 gttgacagca actgattcta ttcagttgtg ggctcctcca ggagatgata ttctggaaga
      661 ggaggaagaa attgataata cagttcctcc tgttttaaat gattggaagt gtgtctggca
      721 gtgcaaaacc tcagtatctg tacatttgat ggaatggtct cctgatggtg aatattttgc
      781 tactgctgga aaggatgatt gtcttttgaa agtgtggtat cctatgactg gttggaagtc
      841 ttcaattata cctcaggatc atcatgaagt aaaaaggaga cagtcctcta ctcaattttc
      901 ttttgtttac ttggcacatc cccgagctgt gacaggtttt tcgtggcgca aaactagcaa
      961 gtatatgccc aggggttctg tctgtaatgt gttgttaact tcatgtcatg atggtgtgtg
     1021 ccggctctgg gcagaaactt tattaccaga agactgtctt ttgggtgagc agatttgtga
     1081 gactaccact tccagcattg ccagcagcct ttctcatgct ggaagacaca aagacagaat
     1141 acagcatgct cttgagacaa tacaccattt gaaaaattta aggaaaggac agaggaggtc
     1201 atctgttctt gtaactcatg ctgaattaat gcccgaccag acagcaatgc atgaagttca
     1261 aagacacatt tcccaccatg caaatgcact ctgtcatttt catattgcag caagcatcaa
     1321 ccctgccaca gatattccaa atgtcttggt tggcactgca tttaatgttg atgatggaaa
     1381 tgggggcttt gtagttcatt ggttaaacaa caaggaattt cattttacat catctacaga
     1441 agtatttatg catcaattac gaaaactttc tgataagcag gtagatcatg aaaatgatga
     1501 tgcagataga gaagatgagg aacattcaca ggaggataga gaacggggtt tacatatgaa
     1561 attagaccat gatttatccc tggatagaga atctgaggca ggtacaggat catcagaaca
     1621 tgaagatgga gaaagagaag gaagtcctag aacttactca cgacttagtg taccaatgcc
     1681 actgcctacg gttctgcttg atcggaagat tgaaacgctg ctaactgaat ggaataagaa
     1741 tcctgatatg ctttttacaa tacaccctgt agatggtacc tttctagtgt ggcatgtgaa
     1801 gtatttggat gaatataatc ctggaatatt tagacaagtt caggtttctt tttcttctcg
     1861 gattcctgtt gcatttccct ctggtgatgc aagctctctt agtaaaaata tcatgatgta
     1921 tgcctgtata aatgcgacaa aagattctca ccacacgctg ttacaccagg aggggatgtc
     1981 tgtaggcagt cctcacggat cacagccaca ctctagatcc cacagtacac atatgaacat
     2041 cttagctccc acagtaatga tgatctctaa acacatagat ggttctttaa atcagtgggc
     2101 agtcactttt gctgataagt ctgcctttac cactgttcta actgtatctc acaaatttag
     2161 atattgcggt catcgatttc acctcaatga cctggcatgt cattcagttt taccactgtt
     2221 attgacatcc tctcatcata atgctctatt gactcctgaa ttagattgtc agtgggactc
     2281 agacaataaa ttaagtagat taatggaccc tgtaaaacat ataaaaggtt cctcgaaaca
     2341 acctcttaga aatgcagcaa ctcgtacatt tcatgaccca aatgcaatct acagtgaact
     2401 tattctgtgg cgtgtagacc caataggacc tttgtcatac actggaggag tatcagaatt
     2461 ggctcgaatt aactctttac atacctcagc gttctctaat gtggcttggc ttccaactct
     2521 cattcccagt tactgtctag gcacatactg caattctgca agtgcttgct ttgttgcttc
     2581 tgatggcaaa aatctgagac tctatcaagc tgtagtggat gcaaggaaat tattagatga
     2641 attgtcagac ccagaatctt caaaacttat tggagaagtg tttaatattg tgagccaaca
     2701 gtctactgct cgacctggct gcattattga actcgacgca ataaccaacc aatgtggctc
     2761 aaatacacag ttgcttcatg tgtttcaaga agacttcatt ataggatata aaccacataa
     2821 ggaagatatg gagaaaaagg aaacagaaat attttttcag ccatcacaag gataccgccc
     2881 accaccattt tcagaaaagt tctttctagt agtaattgag aaggacagca ataataactc
     2941 tattctgcat atgtggcacc ttcatcttaa atctgtacaa gcatgtttag ctaaagcttc
     3001 agaaggggct tcctctgaga gtctactttc agtccctgga cagaagaacg tagattcttc
     3061 tccagaaacc tctcctagtg tgagccccat gccacattct tcatcaattg ccaatcttca
     3121 aactgccagt aaacttattc tgagttctag actggtgtat agccaacccc ttgatctccc
     3181 agaatcagtt gaagtaataa gagcaacgcc ttcagcaggc catctgagtt cttcttcaat
     3241 ttatccagtg tgccttgcac cttatttagt ggttacaact tgttctgaca ataaagtacg
     3301 cttctggaaa tgttgtatgg aagccaaccc agagtgtaat aaaagtgatg agaaagaaat
     3361 ttatcattgg aagagatggc ctttgatgaa tgatgaagga gaagataata gcagtacagt
     3421 gagcattgtg ggaagaccag ttgctgttag ctgttcatac acaggtcgcc ttgcagtggc
     3481 ttataagcag cctatccacc ataatggttt tgtttctaaa gaattttcca tgcatgtttg
     3541 tatatttgaa tgtgaatcta caggaggatc agagtgggtt ttagaacaaa caattcatct
     3601 tgatgatttg gttaaggttg ggagtgtact tgattcaagg gtcagcgtcg acagtaatct
     3661 gtttgtgtat agcaagtcag atgcactctt gagcaaggat agatatctta ttccgaatat
     3721 caaacattta gtacatttgg actgggtatc aaaagaagat ggctcccaca ttcttacagt
     3781 gggagtcggt gcgaatatct tcatgtatgg aaggctttca ggaattgtga ctgagcaaac
     3841 caacagtaag gatggagtag ctgtcatcac tttaccacta ggtggtagta tcaagcaagg
     3901 agttaagtca agatgggttc ttcttagatc tatagacttg gtatcttctg ttgatggtac
     3961 tccttcactg cctgtttctc tctcttgggt aagagatggg atattggtgg taggaatgga
     4021 ttgtgaaatg catgtatatg cacagtggaa gcatgctgtc aaatttggag acactgaagc
     4081 tgatagttct aatgcagaag aggcagcaat gcaagatcat tcgaccttta aatctaatat
     4141 gctggcaaga aaaagtgttg ttgaaggaac agctatttct gatgatgttt tttgttcacc
     4201 aactgtaatt caagatggtg gcttatttga ggctgcacat gtactttccc ctactcttcc
     4261 acaatatcat ccaactcagc tgttagaatt gatggattta gggaaagtgc gaagggctaa
     4321 agccattctc tctcatttag taaaatgtat tgcaggtgaa gtagcaatag ttagagatcc
     4381 tgatgctgga gaaggaacta agcgacatct ctctcgaact attagtgtaa gtggcagtac
     4441 agcaaaggaa acagtcaccg taggaaaaga tggtactcga gattatactg agatagattc
     4501 tatccctcca ctaccactat atgcattact tgctgcagat caagatacat cctacagaat
     4561 ttcagaagaa agtacaaaga taccacagag ctatgaagat cagacagtaa gtcaaccaga
     4621 ggatcagtat tcagagctgt ttcaaatcca ggatatacca acggatgata ttgatttaga
     4681 gcctgaaaag agagaaaaca aatcaaaagt aataaatctt tctcaatatg gaccagctta
     4741 ctttggccaa gaacatgcaa gggtactttc aagtcatctt atgcactcaa gtctaccagg
     4801 ccttacccgt ttggagcaga tgttccttgt agctttggct gatacagtgg ctactactag
     4861 tactgagctt gatgaaagca gagataagag ttgctcagga agagatacat tagatgagtg
     4921 tggtttgaga tacttgttag ctatgcgcct acacacatgc cttttgacat cgctgcctcc
     4981 tttataccga gtgcagctac ttcatcaagg tgtctctaca tgccattttg cctgggcttt
     5041 tcattctgag gctgaagaag aactgattaa tatgattcca gcaattcaga gaggggaccc
     5101 ccagtggtct gaattaagag ctatgggcat aggatggtgg gtgaggaaca ttaacacgct
     5161 tcgaagatgc attgaaaagg ttgccaaagc ttcttttcaa aggaacaatg atgccttaga
     5221 tgctgcacta ttctaccttt caatgaagaa gaaagcagta gtgtggggtc tgtttaggtc
     5281 acagcatgat gaaaaaatga caacattttt cagccacaac tttaatgaag atagatggcg
     5341 aaaagctgct ttgaaaaatg ctttttcctt acttggaaaa caacgctttg aacaatcggc
     5401 tgcttttttc ttgctagctg gttcattgaa agatgccata gaggtatgtc ttgaaaaaat
     5461 ggaagatatt cagctagcca tggttattgc ccgtttatat gaatctgaat ttgagacttc
     5521 atccacttat atatccatcc taaatcagaa gattttgggt tgccaaaagg atggctcagg
     5581 attcagttgc aaaagattac atcctgatcc tttcctgcgt agtcttgcct attgggtaat
     5641 gaaagattac acccgagcct tggacacatt actggaacaa acaccaaagg aggatgatga
     5701 acatcaagtt atcatcaagt cttgtaaccc ggtggcattt agtttttata actaccttcg
     5761 aactcatcct ttgctcattc gaagaaatct tgcctcccct gaaggaactt tggcaacctt
     5821 aggtctcaaa actgagaaga actttgttga taaaattaac ctcatagaaa gaaaattatt
     5881 ctttaccact gcaaatgctc attttaaagt tggatgccct gttttagcct tggaggtact
     5941 ctccaaaatt ccaaaagtaa ccaaaacatc tgccttatct gcaaaaaaag atcagcctga
     6001 cttcatttct cacaggatgg atgatgtacc ttcacattca aaagctctga gtgatggcaa
     6061 tggaagttct ggcattgaat ggtcaaatgt aacttcatca cagtatgact ggagtcagcc
     6121 aatagtaaaa gttgatgagg aacctcttaa tcttgattgg ggtgaagatc acgacagtgc
     6181 cttagatgaa gaggaagacg atgctgttgg tttagtgatg aaaagtacag atgccaggga
     6241 aaaagataaa caatcagatc agaaggcctc agaccctaac atgttattaa cacctcagga
     6301 agaggatgat cctgaaggtg atactgaagt tgatgtgatt gctgaacaac taaaattcag
     6361 agcttgttta aagatcctta tgactgaatt aagaacattg gctacaggtt atgaagtaga
     6421 tggaggaaaa ctcagatttc aactctataa ctggcttgaa aaggaaattg ctgccttgca
     6481 tgagatatgt aatcatgaat cagttattaa agagtattcc agtaagacat attccaaagt
     6541 agagagtgat ctgctggatc aggaagaaat ggtagacaaa ccagatattg gttcctatga
     6601 gcgccatcaa atagaaagaa gaagattgca ggccaaacga gagcatgcag aaagacgaaa
     6661 gtcgtggttg cagaaaaacc aagatctcct gagagtattt ctcagctact gtagccttca
     6721 tggggcccaa ggtggtggtt tggcttcagt aaggatggaa ctcaaatttt tgctacaaga
     6781 atcacaacag gaaactacag taaagcagct ccagtctcca ctaccactgc ctaccaccct
     6841 acctctgctt tcagcaagta ttgcgtcaac aaaaacagtc atagctaatc ctgtattgta
     6901 cttaaataat cacatccatg atatacttta tactattgtt cagatgaaaa caccacctca
     6961 tcccagtatt gaagatgtga aggtgcacac acttcattca ctagcagcat cactttctgc
     7021 atcaatttac caagcattat gtgacagtca tagctacagc agtcaaacag aaggaaatca
     7081 gtttacagga atggcttatc aaggacttct tttaagtgat cgtagaagac taaggacaga
     7141 aagcattgaa gaacacgcaa caccaaattc atctcctgct caatggcctg gtgtgagctc
     7201 acttattaat cttttgagtt cagcccaaga tgaagaccag ccaaaactga acattttgct
     7261 atgtgaagct gttgttgctg tttacttaag tttattgata catgctcttg ccacaaattc
     7321 ctccagtgaa ttatttcggc ttgcagccca cccattaaat aatcgaatgt gggctgctgt
     7381 ttttggaggc ggtgtaaaac ttgttgtgaa acctcgaaga caatcagaaa atatttcagc
     7441 acctcctgtc ctttctgaag acatagataa acaccgtagg agatttaaca tgagaatgct
     7501 cgtccctgga aggcctgtaa aagatgctac cccaccaccg gtgcctgcag aaagaccatc
     7561 ttacaaagaa aaatttattc ctcccgaact tagtatgtgg gattattttg ttgcaaagcc
     7621 atttcttcct ttgtctgata gtggtgttat atatgattct gatgaaagca ttcatagtga
     7681 tgaagaagat gatgcctttt tttcagatac acaaatacag gagcaccaag atccaaattc
     7741 ctatagctgg gctcttctac atttgacaat ggttaaacta gcacttcaca atgtcaagaa
     7801 tttctttcct attgctggac tggaattctc tgagctgcct gtaacatcac cattaggtat
     7861 tgctgtgatt aaaaacttgg agaactggga acagatcttg caagagaaaa tggatcagtt
     7921 tgaaggtcca ccccctaact atatcaacac atatccaact gacctttcag tgggagctgg
     7981 accagctatt cttcgaaata aagcaatgct agaacctgaa aataccccat tcaagtcccg
     8041 ggattcttct gcatttccag tcaaacgact ttggcatttc cttgttaaac aagaggtcct
     8101 tcaagagaca tttattagat atattttcac taagaaaaga aagcagagtg agtctataga
     8161 agaacatgtg gagcaggtca accaaaactg catagcagaa gattgccaca tcaaggttga
     8221 agctgatctg ggctatccag gtggaaaggc gaaagtcatc cataaggaat ctgatatgat
     8281 catggcattt tctgttaata aggcaaattg taatgaaatt gttttggctt caacacatga
     8341 tgttcaagaa cttgatgtta cttctctact ggcctgtcag tcatacatat ggatcggaga
     8401 agaatatgac agagaatcca aaagttcaga tgatgttgat tatcgtggtt ccactacaac
     8461 tctttatcaa cccagtgcaa catcctattc agcaagtcag gtgcatccac cttcatctct
     8521 gccatggctg ggcactggac agactagcac tggagctagt gtgcttatga aaaggaatct
     8581 acataatgtt aagagaatga cttcacaccc agtccatcaa tactatctta caggtgctca
     8641 ggacggcagt gtacgaatgt ttgaatggac gcggcctcag caacttgtct gctttcgtca
     8701 agctggcaat gcaagagtta ctagattata ttttaattca caaggcaaca agtgtggtgt
     8761 tgcggatgga gagggttttc tgagtatctg gcaagttaac caaactgcat caaatcctaa
     8821 accttatatg agttggcagt gccacagtaa agccacaagt gactttgcat ttattacctc
     8881 ttcaagtcta gttgccacat ctggacactc caatgacaat agaaatgttt gcctctggga
     8941 cacattaata tcacccggaa acagcctcat tcatggtttc acgtgccacg atcatggtgc
     9001 cacggtactg cagtatgcac ccaaacagca actcctaatc tcggggggta ggaaaggaca
     9061 cgtctgcatt tttgacatca ggcaaaggca gctcattcac acgttccagg cccatgactc
     9121 agctattaag gctctggcct tggatcccta tgaggaatat tttaccacag gttcagcaga
     9181 aggtaacata aaggtttgga gattgacagg ccatggccta attcattcat ttaaaagtga
     9241 acatgctaag cagtccatat ttcgaaacat tggggctgga gtcatgcaga ttgacatcat
     9301 ccagggcaat cggctcttct cctgtggtgc agatggcacg ctgaaaacca gggttttgcc
     9361 caatgctttt aacatcccta acagaattct tgacattcta taaagattgg ggttttattt
     9421 ttatatacat ttcagttaaa aggcacacta cagtcatcac taggcaattc tgctttctaa
     9481 gcagttgtat tgaaaacaga gaatctctgt gtagaatttg aatatgaccc aagctgagta
     9541 ttatctaaac aggttggtgg aatgaatgcg catgtacctt attatgctga catactaaaa
     9601 aaaataaaac ctagtattgt atgaaggata gctattcttt acagcattta gcaaacctga
     9661 ttcagaaaac atttgagatt agcaaattag taacttgaaa taatgaaaag gacgtttata
     9721 ccaaattaag gaagaaaatg ttgctgattt gggtttttct tcctgttctt accactgact
     9781 gaagcatgcc tgcagtctcc tcctctgttg aatgaaggat aatcataagg tgtttgttag
     9841 gagcgctaga ccacctggaa aactttctta gctgtggagc agtgcgcagt gaccagttct
     9901 ctgctgtgag aggccgtttc cattctttcc tgctgaatat ttttcctgtt agtgtttata
     9961 ctgagctagt actgtaactt gcaaatgagt gcaaatttaa atgcaatgtt ttactcacaa
    10021 tttgcacatt cacatttttt ggactgctag tttttctatt taaatatttg ccttcatgtt
    10081 aggaatgtac tatgtgaaca tgacatattt gtagttaacc aaacacacct tcttagtcca
    10141 gtttagtact ttttcttttc gtgtattcaa ggttaaacac ccaaacattt aaggatatgt
    10201 tgaaactaca ccaatagagc atttcatatc ataattaaaa tgaatgttag gcttcttgtg
    10261 gccagttaat agttgatgag attggtgaca ttatttattg ccacagccta ttgtataaac
    10321 tatgcagagt taaatatttg cttgtaaaat attagccaat gttgtcatta ttttgatgta
    10381 tttccttggt tatgaccaaa aatatgttga gatactgaaa ctaatgtctg tgtgtttaaa
    10441 tgtttaccag caaattgtct tatcatgtta atgagaatgt tcaatgcctg tgtggtaaat
    10501 agtaaataca atggcataaa agtaactttc tctgaagatg tgatgttcag gctgtgaaat
    10561 atatatgtaa aagaaaaata aatgttattt gttaga
//
