GGRNA Home | Help | Advanced search

2024-03-29 17:51:14, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_014845               3123 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing
            (S. cerevisiae) (FIG4), mRNA.
ACCESSION   NM_014845
VERSION     NM_014845.5  GI:189217868
KEYWORDS    RefSeq.
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 3123)
  AUTHORS   Campeau,P.M., Lenk,G.M., Lu,J.T., Bae,Y., Burrage,L., Turnpenny,P.,
            Roman Corona-Rivera,J., Morandi,L., Mora,M., Reutter,H., Vulto-van
            Silfhout,A.T., Faivre,L., Haan,E., Gibbs,R.A., Meisler,M.H. and
            Lee,B.H.
  TITLE     Yunis-Varon syndrome is caused by mutations in FIG4, encoding a
            phosphoinositide phosphatase
  JOURNAL   Am. J. Hum. Genet. 92 (5), 781-791 (2013)
   PUBMED   23623387
  REMARK    GeneRIF: Yunis-Varon syndrome is caused by mutations in FIG4,
            encoding a phosphoinositide phosphatase.
REFERENCE   2  (bases 1 to 3123)
  AUTHORS   Nicholson,G., Lenk,G.M., Reddel,S.W., Grant,A.E., Towne,C.F.,
            Ferguson,C.J., Simpson,E., Scheuerle,A., Yasick,M., Hoffman,S.,
            Blouin,R., Brandt,C., Coppola,G., Biesecker,L.G., Batish,S.D. and
            Meisler,M.H.
  TITLE     Distinctive genetic and clinical features of CMT4J: a severe
            neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4
  JOURNAL   Brain 134 (PT 7), 1959-1971 (2011)
   PUBMED   21705420
  REMARK    GeneRIF: This study demonistrated that CMT4J is a clinically
            distinct form of Charcot-Marie-Tooth disease with mutations in the
            PI(3,5)P phosphatase FIG4.
REFERENCE   3  (bases 1 to 3123)
  AUTHORS   Tsai,C.P., Soong,B.W., Lin,K.P., Tu,P.H., Lin,J.L. and Lee,Y.C.
  TITLE     FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial
            ALS
  JOURNAL   Neurobiol. Aging 32 (3), 553 (2011)
   PUBMED   20472325
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3123)
  AUTHORS   Ikonomov,O.C., Sbrissa,D., Fligger,J., Delvecchio,K. and
            Shisheva,A.
  TITLE     ArPIKfyve regulates Sac3 protein abundance and turnover: disruption
            of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth
            4J disorder
  JOURNAL   J. Biol. Chem. 285 (35), 26760-26764 (2010)
   PUBMED   20630877
  REMARK    GeneRIF: a novel regulatory mechanism whereby ArPIKfyve enhances
            Sac3 abundance by attenuating Sac3 proteasome-dependent degradation
            and suggest that a failure of this mechanism could be the primary
            molecular defect in the pathogenesis of CMT4J.
REFERENCE   5  (bases 1 to 3123)
  AUTHORS   Ikonomov,O.C., Sbrissa,D., Fenner,H. and Shisheva,A.
  TITLE     PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their
            consequence for Sac3 phosphatase activity and endocytic membrane
            homeostasis
  JOURNAL   J. Biol. Chem. 284 (51), 35794-35806 (2009)
   PUBMED   19840946
  REMARK    GeneRIF: PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and
            their consequence for Sac3 phosphatase activity and endocytic
            membrane homeostasis
REFERENCE   6  (bases 1 to 3123)
  AUTHORS   Sbrissa,D., Ikonomov,O.C., Fenner,H. and Shisheva,A.
  TITLE     ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve
            and Sac3 in a complex to promote PIKfyve activity and functionality
  JOURNAL   J. Mol. Biol. 384 (4), 766-779 (2008)
   PUBMED   18950639
  REMARK    GeneRIF: The authors data indicate that the PAS complex is
            organized to provide optimal PIKfyve functionality and is
            maintained via ArPIKfyve homomeric and heteromeric interactions.
REFERENCE   7  (bases 1 to 3123)
  AUTHORS   Sbrissa,D., Ikonomov,O.C., Fu,Z., Ijuin,T., Gruenberg,J.,
            Takenawa,T. and Shisheva,A.
  TITLE     Core protein machinery for mammalian phosphatidylinositol
            3,5-bisphosphate synthesis and turnover that regulates the
            progression of endosomal transport. Novel Sac phosphatase joins the
            ArPIKfyve-PIKfyve complex
  JOURNAL   J. Biol. Chem. 282 (33), 23878-23891 (2007)
   PUBMED   17556371
REFERENCE   8  (bases 1 to 3123)
  AUTHORS   Chow,C.Y., Zhang,Y., Dowling,J.J., Jin,N., Adamska,M., Shiga,K.,
            Szigeti,K., Shy,M.E., Li,J., Zhang,X., Lupski,J.R., Weisman,L.S.
            and Meisler,M.H.
  TITLE     Mutation of FIG4 causes neurodegeneration in the pale tremor mouse
            and patients with CMT4J
  JOURNAL   Nature 448 (7149), 68-72 (2007)
   PUBMED   17572665
  REMARK    GeneRIF: We identified pathogenic mutations of human FIG4
            (KIAA0274) on chromosome 6q21 in four unrelated patients with
            hereditary motor and sensory neuropathy.
REFERENCE   9  (bases 1 to 3123)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (bases 1 to 3123)
  AUTHORS   Minagawa,T., Ijuin,T., Mochizuki,Y. and Takenawa,T.
  TITLE     Identification and characterization of a sac domain-containing
            phosphoinositide 5-phosphatase
  JOURNAL   J. Biol. Chem. 276 (25), 22011-22015 (2001)
   PUBMED   11274189
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA811740.1, BC041338.2,
            AK222732.1 and BU683891.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 31, 2008 this sequence version replaced gi:36030904.
            
            Summary: The protein encoded by this gene belongs to the SAC
            domain-containing protein gene family. The SAC domain,
            approximately 400 amino acids in length and consisting of seven
            conserved motifs, has been shown to possess phosphoinositide
            phosphatase activity. The yeast homolog, Sac1p, is involved in the
            regulation of various phosphoinositides, and affects diverse
            cellular functions such as actin cytoskeleton organization, Golgi
            function, and maintenance of vacuole morphology. Membrane-bound
            phosphoinositides function as signaling molecules and play a key
            role in vesicle trafficking in eukaryotic cells. Mutations in this
            gene have been associated with Charcot-Marie-Tooth disease, type
            4J. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC041338.2, AK291671.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-567               DA811740.1         6-572
            568-2458            BC041338.2         524-2414
            2459-2773           AK222732.1         2356-2670
            2774-3123           BU683891.1         1-350               c
FEATURES             Location/Qualifiers
     source          1..3123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..3123
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /note="FIG4 homolog, SAC1 lipid phosphatase domain
                     containing (S. cerevisiae)"
                     /db_xref="GeneID:9896"
                     /db_xref="HGNC:16873"
                     /db_xref="HPRD:11073"
                     /db_xref="MIM:609390"
     exon            1..281
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       34
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:55873083"
     variation       95
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75509752"
     variation       96
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75045314"
     variation       100
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:151120474"
     misc_feature    138..140
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /note="upstream in-frame stop codon"
     CDS             216..2939
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /note="Sac domain-containing inositol phosphatase 3; FIG4
                     homolog, SAC domain containing lipid phosphatase; SAC
                     domain-containing protein 3; phosphatidylinositol
                     3,5-bisphosphate 5-phosphatase; FIG4 homolog, SAC1 domain
                     containing lipid phosphatase"
                     /codon_start=1
                     /product="polyphosphoinositide phosphatase"
                     /protein_id="NP_055660.1"
                     /db_xref="GI:7662034"
                     /db_xref="CCDS:CCDS5078.1"
                     /db_xref="GeneID:9896"
                     /db_xref="HGNC:16873"
                     /db_xref="HPRD:11073"
                     /db_xref="MIM:609390"
                     /translation="
MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQQEVRELLGRLDLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIGGHAIYKVEDTNMIYIPNDSVRVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLTVLRMPLEMLKSEMTQNRQESFDIFEDEGLITQGGSGVFGICSEPYMKYVWNGELLDIIKSTVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFAGTRFLKRGANCEGDVANEVETEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQADPFAHVAALHFDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAKYTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTGILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDTLSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHPTEGKPHLWELPTDFYLHHKNTMRLLPTRRSYTYWWTPEVIKHLPLPYDEVICAVNLKKLIVKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDETGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEGSVSQRSTPVKMTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCSRCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYREYIRNRYL
"
     misc_feature    255..2138
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /note="Phosphoinositide polyphosphatase (Sac family)
                     [Signal transduction mechanisms]; Region: COG5329"
                     /db_xref="CDD:34909"
     misc_feature    489..1484
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /note="SacI homology domain; Region: Syja_N; pfam02383"
                     /db_xref="CDD:202227"
     variation       242
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141040807"
     variation       276
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144593588"
     exon            282..380
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       294
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370608837"
     variation       316
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375691683"
     variation       317
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:145711919"
     variation       324
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368625871"
     variation       325
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192324110"
     variation       330
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77428741"
     variation       331
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373630745"
     variation       337
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121908287"
     variation       346
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375629140"
     variation       372
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:121908290"
     exon            381..504
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       388
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145337669"
     variation       395
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376730932"
     variation       458
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200257799"
     exon            505..661
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       515
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368831195"
     variation       524
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:151070087"
     variation       536
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:372854425"
     variation       543
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140331779"
     variation       566
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375963892"
     variation       589
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145466148"
     variation       613
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34006646"
     exon            662..712
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     exon            713..861
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       750
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141116831"
     variation       761
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:76299485"
     variation       762
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121908288"
     variation       774
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370115339"
     variation       842
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140111406"
     exon            862..990
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       863
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375618621"
     variation       891
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367828752"
     variation       945
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138376077"
     variation       959
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:76125290"
     variation       977
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201013726"
     exon            991..1091
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1003
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370148297"
     variation       1004
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149257617"
     variation       1023
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61729092"
     variation       1049
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:138048706"
     exon            1092..1254
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1126
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372497846"
     variation       1130
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375022448"
     variation       1133
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369159531"
     variation       1138
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180689715"
     exon            1255..1352
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1284
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376772954"
     variation       1305
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:2295837"
     variation       1307
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369640318"
     variation       1313
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:140977049"
     exon            1353..1486
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1356
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377357931"
     variation       1373
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370557879"
     variation       1421
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199711958"
     variation       1443
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142463699"
     variation       1457
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61729087"
     exon            1487..1603
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1509
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149991846"
     variation       1520
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145227623"
     variation       1534
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113457157"
     variation       1556
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199651811"
     variation       1563
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201072058"
     variation       1564
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188547769"
     variation       1577
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145835022"
     variation       1591
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141309562"
     exon            1604..1649
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1620
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201742496"
     variation       1641
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201655264"
     variation       1642
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192823053"
     exon            1650..1798
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1681
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201189638"
     variation       1694
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144072304"
     variation       1719
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377415632"
     variation       1737
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78382144"
     variation       1740
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146488614"
     variation       1759
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370249754"
     variation       1770
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374129146"
     variation       1772
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141052758"
     exon            1799..1965
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     exon            1966..2104
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       1970
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377111248"
     variation       2019
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143184413"
     variation       2024
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148280593"
     variation       2078
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201744761"
     exon            2105..2163
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2118
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200878068"
     variation       2138
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140078026"
     variation       2155
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150301327"
     exon            2164..2311
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2176
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:9885672"
     variation       2205
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370602258"
     variation       2250
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188910818"
     variation       2251
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192447225"
     variation       2267
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183958565"
     variation       2295
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143531641"
     exon            2312..2395
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2330
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201271644"
     variation       2334
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376570182"
     variation       2356
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146689226"
     variation       2361
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139235893"
     variation       2367
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199801181"
     variation       2369
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201138266"
     exon            2396..2591
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2415
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372846619"
     variation       2438
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:181012139"
     variation       2450
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144830399"
     variation       2456
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148589135"
     variation       2459
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:17854106"
     variation       2471
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375960403"
     variation       2475
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200691981"
     variation       2480
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370849021"
     variation       2554
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373590484"
     variation       2557
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202037669"
     variation       2575
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377017892"
     variation       2588
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371560862"
     exon            2592..2674
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2620
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370293982"
     variation       2659
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375414729"
     exon            2675..2761
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2705
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141824377"
     variation       2744
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371285210"
     exon            2762..3105
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /inference="alignment:Splign:1.39.8"
     variation       2767
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201375273"
     variation       2774
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1127771"
     variation       2782
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200970494"
     variation       2783
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:140055056"
     variation       2832
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199765196"
     variation       2856
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369458436"
     variation       2878
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200901577"
     variation       2919
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:143685038"
     STS             2927..3051
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /standard_name="D6S2073"
                     /db_xref="UniSTS:1516"
     variation       2946
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113946190"
     variation       2953
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114136062"
     variation       2957
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374775906"
     variation       2968
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:10659"
     polyA_signal    3016..3021
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
     variation       3032
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148323115"
     polyA_site      3038
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
     variation       3059
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1127775"
     polyA_signal    3082..3087
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
     polyA_site      3105
                     /gene="FIG4"
                     /gene_synonym="ALS11; CMT4J; dJ249I4.1; KIAA0274;
                     RP1-249I4.1; SAC3; YVS"
ORIGIN      
acgtcctccagccccgctcccgacgtgaggggcggggcttgcctggaggcggggcgcagggatccggaaacacctgatcatctataggtttagtgcctaatgggtgttgttcctggctggacttgatgtccagggcctgaggggttttctcgccgagtctcctggggcggtccggaggctcgtgccctgttgtggggcccccatttgccgccgccatgcccacggccgccgcccccatcatcagctcggtccagaagctggttctgtatgagactagagctagatactttctagttgggagcaataatgcagaaacgaaatatcgtgtcttgaagattgatagaacagaaccaaaagatttggtcataattgatgacaggcatgtctatactcaacaagaagtaagggaacttcttggccgcttggatcttggaaatagaacaaagatgggacagaaaggatcctcgggcttatttcgagcggtttcagcttttggtgttgtgggttttgtcaggttcttagaaggctattatattgtgttaataactaaaaggaggaagatggcggatattggaggtcatgcaatctataaggtcgaagatacaaatatgatctatatacccaatgattctgtacgggttactcatcctgatgaagctaggtatctacgaatatttcaaaatgtggacctatctagcaatttttactttagttacagctatgatttgtcccactcacttcaatataatctcactgtcttgcgaatgcccctggagatgttaaagtcagaaatgacccagaatcgccaagagagctttgacatctttgaagatgaaggattaattacacaaggtggaagcggggtatttgggatctgtagtgagccttatatgaaatatgtatggaatggtgaacttctggatataattaaaagtactgtgcatcgtgactggcttttgtatattattcatgggttctgtgggcagtcaaagctgttgatctatggacgaccagtgtatgtcactctaatagctagaagatccagtaaatttgctggcacccgttttcttaaaagaggtgcaaactgtgagggtgatgttgcaaatgaagtggagactgaacaaatactctgcgatgcttctgtgatgtctttcactgcaggaagttattcttcatatgtacaagttagaggatctgtgcccttatactggtctcaggacatttcaactatgatgcctaaaccacctattacattggatcaggcagatccatttgcacatgtggctgcccttcactttgaccagatgttccagaggtttggctctcccatcatcatcttgaatttagtgaaggaacgagagaaaagaaagcatgaaagaattctgagtgaagaacttgttgctgctgtgacctatctcaaccaatttttgcctcctgagcacactattgtttatattccctgggacatggccaagtataccaaaagcaagctgtgtaatgttcttgatcgactaaatgtgattgcagaaagtgtggtgaagaaaacaggtttctttgtaaaccgccctgattcttactgtagcattttgcggccagatgaaaagtggaatgaactaggaggatgtgtgattcccactggtcgcctgcagactggcatccttcgaaccaactgtgtggactgtttagatcgcaccaacacagcacagtttatggtgggaaaatgtgctctggcctatcagctgtattcactgggactgattgacaaacctaatctacagtttgatacagatgcagttaggttatttgaggaactctatgaagatcatggtgataccctatcccttcagtatggtggttctcaacttgttcatcgtgtgaaaacctacagaaagatagcaccatggacccagcactccaaagacatcatgcaaaccctgtctagatattacagcaatgctttttcagatgccgatagacaagattccattaatctcttcctgggagttttccatcccactgaagggaaacctcatctctgggagctcccaacagatttttatttgcatcacaaaaataccatgagacttttgccaacaagaagaagttatacttactggtggacaccagaggtgataaagcatttaccattgccctatgatgaagttatctgtgctgtgaacttaaagaagttgatagtgaagaaattccacaaatatgaagaagagattgatatccacaatgagttctttcggccatatgagttgagcagctttgatgataccttttgcttggctatgacaagctcagcacgtgactttatgcctaagaccgttggaattgatccaagtccatttactgtgcgtaaaccagatgaaactggaaaatcagtattgggaaacaaaagcaatagagaagaagctgtattacagcggaaaacggcagccagcgccccgccgccccccagcgaggaggctgtgtccagcagctctgaggatgactctgggactgatcgggaagaagagggctctgtgtctcagcgctccactcccgtgaagatgactgatgcaggagacagtgccaaagtgaccgagaatgtggtccaacccatgaaggagctatatggaattaacctctcagatggcctctcagaagaagatttctccatttattcaagatttgttcagctggggcagagtcaacataaacaagacaagaatagccagcagccctgttctaggtgctcagatggagttataaaactaacacccatctcggctttctcgcaagataacatctatgaagttcagcccccaagagtagacagaaaatctacagagatcttccaagcccacatccaggccagccaaggtatcatgcagcccctaggaaaagaggactcctccatgtaccgagagtacatcaggaaccgctacctgtgaaaagagcgcaggtccacctggtggacacgtctgattagcttagaacctgtcttgtctcatcttcaaaaggtaacttattaaaagtcctttgcgtctgaagcctttctccttttctgtcacttgcaaattccaaattatagctaataaagatgactagataatttgcaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:9896 -> Molecular function: GO:0004438 [phosphatidylinositol-3-phosphatase activity] evidence: IEA
            GeneID:9896 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:9896 -> Molecular function: GO:0043812 [phosphatidylinositol-4-phosphate phosphatase activity] evidence: IEA
            GeneID:9896 -> Molecular function: GO:0043813 [phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity] evidence: TAS
            GeneID:9896 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: TAS
            GeneID:9896 -> Biological process: GO:0006661 [phosphatidylinositol biosynthetic process] evidence: TAS
            GeneID:9896 -> Biological process: GO:0007033 [vacuole organization] evidence: IEA
            GeneID:9896 -> Biological process: GO:0007626 [locomotory behavior] evidence: IEA
            GeneID:9896 -> Biological process: GO:0008219 [cell death] evidence: IEA
            GeneID:9896 -> Biological process: GO:0010976 [positive regulation of neuron projection development] evidence: IEA
            GeneID:9896 -> Biological process: GO:0031642 [negative regulation of myelination] evidence: IEA
            GeneID:9896 -> Biological process: GO:0032288 [myelin assembly] evidence: IEA
            GeneID:9896 -> Biological process: GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process] evidence: TAS
            GeneID:9896 -> Biological process: GO:0043473 [pigmentation] evidence: IEA
            GeneID:9896 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:9896 -> Biological process: GO:0048666 [neuron development] evidence: IEA
            GeneID:9896 -> Cellular component: GO:0000139 [Golgi membrane] evidence: TAS
            GeneID:9896 -> Cellular component: GO:0010008 [endosome membrane] evidence: IDA
            GeneID:9896 -> Cellular component: GO:0031901 [early endosome membrane] evidence: TAS
            GeneID:9896 -> Cellular component: GO:0031902 [late endosome membrane] evidence: TAS

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.