AutismKB 2.0

Evidence Details for C14orf49


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Basic Information Top
Gene Symbol:C14orf49 ( FLJ25605,MGC75267,NET53 )
Gene Full Name: chromosome 14 open reading frame 49
Band: 14q32.13
Quick LinksEntrez ID:161176; OMIM: 610861; Uniprot ID:SYNE3_HUMAN; ENSEMBL ID: ENSG00000176438; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C14orf49|161176|nucleotide
ATGACTCAGCAGCCCCAGGACGACTTTGACAGGAGCGTGGAGGATGCCCAGGCATGGATGAAGGCTGTGCAGGACCAGCTGCAGGTCAATGACAACACGCAGGGA
CCCCGCGCGGCCCTGGAGGCCAGGCTGTGGGAGACCGAGAAAATATGCCAGCTGGAGCCCGAGGGGCGTGTGAGGGTGGACCTCGTGCTACGGATGGCTGAAGCC
CTCTTGGCATGCTGCCCTGGGGACCAGAAGCCCGGGATCCTGGCCCGGCTGAAGGACATCAAGGCCCAATGGGAGGAGACAGTCACCTACATGACTCACTGTCAC
AGCCGCATCGAGTGGGTGTGGCTGCACTGGAGCGAGTACCTGCTGGCCCGAGATGAGTTCTACCGCTGGTTCCAGAAGATGATGGTCACACTGGAGCCCCACATC
GAGCTCCAGCTGGGCCTGAAGGAGAAGCAGTGGCAGCTGAGCCACGCCCAGGTGCTGCTGCACAACGTGGACAACCAGGCGGTGCTCCTGGACCGGCTGCTGGAG
GAGGCAGCCTCCCTGTTCAACAGGATCGGGGACCCCAGCGTGGACGAAGATGCCCAGAAGAGAATGAAGGCTGAGTACGATGCAGTGAAGGCCAAGGCCCAGAAG
CGTGTAGATCTGCTGGAGCAGGTGGCCCGGGAGCATGAGGAGTACCAGGCAGGTGTGGACGAGTTCCAACTGTGGCTGAAGGCGGTGGTGGAGAAGGTGAATGGC
TGCCTGGGGCGGAACTGCAAGCTGCCCATCACGCAGCGCCTCTCCACACTGCAGGACATTGCCAAAGATTTTCCCAGGGGCGAGGAGTCTCTGGAGACGCTGGAG
GAGCAGTCTGCGGGTGTCATTCGGAACACCTCTCCTTTGGGTGCAGAGAAGATCACCGGAGAACTGGAAGAGATGAGGAAAGTTCTGGAGAAGCTGCGCGCCCTC
TGGGAGGAGGAGGAGGAGCGGCTGCGGGGCCTGCTCCGGTCCAGGGGAGCCTGGGAGCAGCAGATTAAGCAGCTGGAGGCTGAGCTCAGTGAGTTCAGGATGGTC
CTGCAGAGGCTGGCCCAGGAGGGCCTGCAGCCTGCGGCGAAAGCGGGGACCGAGGACGAGCTGGTGGCACACTGGAGACGCTACTCGGCAACACGGGCGGCGCTG
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>C14orf49|161176|protein
MTQQPQDDFDRSVEDAQAWMKAVQDQLQVNDNTQGPRAALEARLWETEKICQLEPEGRVRVDLVLRMAEALLACCPGDQKPGILARLKDIKAQWEETVTYMTHCH
SRIEWVWLHWSEYLLARDEFYRWFQKMMVTLEPHIELQLGLKEKQWQLSHAQVLLHNVDNQAVLLDRLLEEAASLFNRIGDPSVDEDAQKRMKAEYDAVKAKAQK
RVDLLEQVAREHEEYQAGVDEFQLWLKAVVEKVNGCLGRNCKLPITQRLSTLQDIAKDFPRGEESLETLEEQSAGVIRNTSPLGAEKITGELEEMRKVLEKLRAL
WEEEEERLRGLLRSRGAWEQQIKQLEAELSEFRMVLQRLAQEGLQPAAKAGTEDELVAHWRRYSATRAALASEEPRVDRLQAQLKELIVFPHNLKPLSDSVIATI
QEYQSLKVKSARLRNAAAVELWQHFQRPLQDLQLWKALAQRLLEVTASLPDLPSLHTFLPQIEAALMESSRLKELLTMLQLKKDLLIGIFGQERATALLEQVAGS
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top