AutismKB 2.0

Evidence Details for GALC


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Basic Information Top
Gene Symbol:GALC ( - )
Gene Full Name: galactosylceramidase
Band: 14q31.3
Quick LinksEntrez ID:2581; OMIM: 606890; Uniprot ID:GALC_HUMAN; ENSEMBL ID: ENSG00000054983; HGNC ID: 4115
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GALC|2581|nucleotide
ATGGCTGAGTGGCTACTCTCGGCTTCCTGGCAACGCCGAGCGAAAGCTATGACTGCGGCCGCGGGTTCGGCGGGCCGCGCCGCGGTGCCCTTGCTGCTGTGTGCG
CTGCTGGCGCCCGGCGGCGCGTACGTGCTCGACGACTCCGACGGGCTGGGCCGGGAGTTCGACGGCATCGGCGCGGTCAGCGGCGGCGGGGCAACCTCCCGACTT
CTAGTAAATTACCCAGAGCCCTATCGTTCTCAGATATTGGATTATCTCTTTAAGCCGAATTTTGGTGCCTCTTTGCATATTTTAAAAGTGGAAATAGGTGGTGAT
GGGCAGACAACAGACGGCACTGAGCCCTCCCACATGCATTATGCACTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAAAGAAGCTAAGAAGAGG
AATCCCAATATTACACTCATTGGGTTGCCATGGTCATTCCCTGGATGGCTGGGAAAAGGTTTCGACTGGCCTTATGTCAATCTTCAGCTGACTGCCTATTATGTC
GTGACCTGGATTGTGGGCGCCAAGCGTTACCATGATTTGGACATTGATTATATTGGAATTTGGAATGAGAGGTCATATAATGCCAATTATATTAAGATATTAAGA
AAAATGCTGAATTATCAAGGTCTCCAGCGAGTGAAAATCATAGCAAGTGATAATCTCTGGGAGTCCATCTCTGCATCCATGCTCCTTGATGCCGAACTCTTCAAG
GTGGTTGATGTTATAGGGGCTCATTATCCTGGAACCCATTCAGCAAAAGATGCAAAGTTGACTGGGAAGAAGCTTTGGTCTTCTGAAGACTTTAGCACTTTAAAT
AGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATCAGAATTATATCAATGGCTATATGACTTCCACAATCGCATGGAATTTAGTGGCTAGTTACTATGAA
CAGTTGCCTTATGGGAGATGCGGGTTGATGACGGCCCAGGAGCCATGGAGTGGGCACTACGTGGTAGAATCTCCTGTCTGGGTATCAGCTCATACCACTCAGTTT
ACTCAACCTGGCTGGTATTACCTGAAGACAGTTGGCCATTTAGAGAAAGGAGGAAGCTACGTAGCTCTGACTGATGGCTTAGGGAACCTCACCATCATCATTGAA
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>GALC|2581|protein
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGD
GQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILR
KMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYE
QLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI
PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top