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 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
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