AutismKB 2.0

Evidence Details for NSFL1C


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Basic Information Top
Gene Symbol:NSFL1C ( MGC3347,UBX1,UBXD10,UBXN2C,dJ776F14.1,p47 )
Gene Full Name: NSFL1 (p97) cofactor (p47)
Band: 20p13
Quick LinksEntrez ID:55968; OMIM: 606610; Uniprot ID:NSF1C_HUMAN; ENSEMBL ID: ENSG00000088833; HGNC ID: 15912
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NSFL1C|55968|nucleotide
ATGGCGGCGGAGCGACAGGAGGCGCTGAGGGAGTTCGTGGCGGTGACGGGCGCCGAGGAGGACCGGGCCCGCTTCTTTCTCGAGTCGGCCGGCTGGGACTTGCAG
ATCGCGCTAGCGAGCTTTTATGAGGACGGAGGGGATGAAGACATTGTGACCATTTCGCAGGCAACCCCCAGTTCAGTGTCCAGAGGCACAGCCCCCAGTGATAAT
AGAGTGACATCCTTCAGAGACCTCATTCATGACCAAGATGAAGATGAGGAGGAAGAGGAAGGCCAGAGGTTTTATGCTGGGGGCTCAGAGAGAAGTGGACAGCAG
ATTGTTGGCCCTCCCAGGAAGAAAAGTCCCAACGAGCTGGTGGATGATCTCTTTAAAGGTGCCAAAGAGCATGGAGCTGTAGCTGTGGAGCGAGTGACCAAGAGC
CCTGGAGAGACCAGTAAACCGAGACCATTTGCAGGAGGTGGCTACCGCCTTGGGGCAGCACCAGAGGAAGAGTCTGCCTATGTGGCAGGAGAAAAGAGGCAGCAT
TCCAGCCAAGATGTTCATGTAGTATTGAAACTCTGGAAGAGTGGATTCAGCCTGGATAATGGAGAACTCAGAAGCTACCAAGACCCATCCAATGCCCAGTTTCTG
GAGTCTATCCGCAGAGGGGAGGTGCCAGCAGAGCTTCGGAGGCTAGCTCACGGTGGACAGGTGAACTTGGATATGGAGGACCATCGGGACGAGGACTTTGTGAAG
CCCAAAGGAGCCTTCAAAGCCTTCACTGGCGAGGGTCAGAAACTGGGCAGCACTGCCCCCCAGGTGTTGAGTACCAGCTCTCCAGCCCAACAGGCAGAAAATGAA
GCCAAAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACAAACATCCAAATTCGGCTTGCAGACGGCGGGAGGCTGGTGCAGAAATTTAACCACAGC
CACAGGATCAGCGACATCCGACTCTTCATCGTGGATGCCCGGCCAGCCATGGCTGCCACCAGCTTTATCCTCATGACTACTTTCCCGAACAAAGAGCTGGCTGAT
GAGAGCCAGACCCTGAAGGAAGCCAACCTGCTCAATGCTGTCATCGTGCAGCGGTTAACATAA
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>NSFL1C|55968|protein
MAAERQEALREFVAVTGAEEDRARFFLESAGWDLQIALASFYEDGGDEDIVTISQATPSSVSRGTAPSDNRVTSFRDLIHDQDEDEEEEEGQRFYAGGSERSGQQ
IVGPPRKKSPNELVDDLFKGAKEHGAVAVERVTKSPGETSKPRPFAGGGYRLGAAPEEESAYVAGEKRQHSSQDVHVVLKLWKSGFSLDNGELRSYQDPSNAQFL
ESIRRGEVPAELRRLAHGGQVNLDMEDHRDEDFVKPKGAFKAFTGEGQKLGSTAPQVLSTSSPAQQAENEAKASSSILIDESEPTTNIQIRLADGGRLVQKFNHS
HRISDIRLFIVDARPAMAATSFILMTTFPNKELADESQTLKEANLLNAVIVQRLT

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top