AutismKB 2.0

Evidence Details for MOCS1


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Basic Information Top
Gene Symbol:MOCS1 ( KIAA0381,MIG11,MOCOD )
Gene Full Name: molybdenum cofactor synthesis 1
Band: 6p21.2
Quick LinksEntrez ID:4337; OMIM: 603707; Uniprot ID:MOCS1_HUMAN; ENSEMBL ID: ENSG00000124615; HGNC ID: 7190
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MOCS1|4337|nucleotide
ATGGCGGCGCGGCCACTGTCCCGGATGCTGCGGCGGCTTCTGAGGTCCAGCGCCCGGAGCTGCAGCTCAGGGGCTCCGGTGACCCAGCCCTGCCCCGGGGAGTCC
GCGCGAGCTGCCTCGGAGGAGGTGTCCAGGCGGAGGCAGTTCCTGCGGGAGCATGCGGCCCCCTTCTCCGCCTTCCTCACAGACAGCTTCGGCCGGCAGCACAGC
TACCTGCGGATCTCCCTCACAGAGAAGTGCAACCTCAGATGTCAGTACTGCATGCCCGAGGAGGGGGTCCCGCTGACCCCCAAAGCCAACCTGCTGACCACAGAG
GAGATCCTGACCCTCGCCCGGCTCTTTGTGAAGGAAGGCATCGACAAGATCCGGCTCACAGGTGGAGAGCCGCTTATCCGGCCGGACGTGGTGGACATTGTGGCC
CAGCTCCAGCGGCTGGAAGGGCTGAGAACCATAGGTGTTACCACCAATGGCATCAACCTGGCCCGGCTACTGCCCCAGCTTCAGAAGGCTGGTCTCAGTGCCATC
AACATCAGCCTGGACACCCTGGTGCCTGCCAAGTTTGAGTTCATTGTCCGCAGGAAAGGCTTCCACAAGGTCATGGAGGGCATCCACAAGGCCATCGAGCTGGGC
TACAACCCTGTGAAGGTGAACTGTGTGGTGATGCGAGGCCTTAACGAGGATGAACTCCTGGACTTTGCGGCCTTGACTGAGGGCCTCCCCCTGGATGTGCGCTTC
ATAGAGTATATGCCCTTTGATGGCAACAAGTGGAACTTCAAGAAGATGGTCAGCTATAAGGAGATGCTAGACACTGTCCGGCAGCAGTGGCCAGAGCTGGAGAAG
GTGCCAGAGGAGGAATCCAGCACAGCCAAGGCCTTTAAAATCCCTGGCTTCCAAGGCCAGATCAGCTTCATCACATCCATGTCTGAGCATTTCTGTGGGACCTGC
AACCGCCTGCGAATCACAGCTGATGGGAACCTCAAGGTCTGCCTCTTTGGAAACTCTGAGGTATCCCTGCGGGATCACCTGCGAGCTGGGGCCTCTGAGCAGGAG
CTGCTGAGAATCATTGGGGCTGCTGTGGGCAGGAAGAAGCGGCAGCATGCAGGCATGTTCAGTATTTCCCAGATGAAGAACCGGCCCATGATCCTCATCGGTGGG
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>MOCS1|4337|protein
MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASEEVSRRRQFLREHAAPFSAFLTDSFGRQHSYLRISLTEKCNLRCQYCMPEEGVPLTPKANLLTTE
EILTLARLFVKEGIDKIRLTGGEPLIRPDVVDIVAQLQRLEGLRTIGVTTNGINLARLLPQLQKAGLSAINISLDTLVPAKFEFIVRRKGFHKVMEGIHKAIELG
YNPVKVNCVVMRGLNEDELLDFAALTEGLPLDVRFIEYMPFDGNKWNFKKMVSYKEMLDTVRQQWPELEKVPEEESSTAKAFKIPGFQGQISFITSMSEHFCGTC
NRLRITADGNLKVCLFGNSEVSLRDHLRAGASEQELLRIIGAAVGRKKRQHAGMFSISQMKNRPMILIGG

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top