AutismKB 2.0

Evidence Details for MAU2


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Basic Information Top
Gene Symbol:MAU2 ( KIAA0892,MAU2L,MGC75361,SCC4,mau-2 )
Gene Full Name: MAU2 chromatid cohesion factor homolog (C. elegans)
Band: 19p13.11
Quick LinksEntrez ID:23383; OMIM: NA; Uniprot ID:SCC4_HUMAN; ENSEMBL ID: ENSG00000129933; HGNC ID: 29140
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAU2|23383|nucleotide
ATGGCGGCTCAGGCGGCGGCAGCGGCCCAGGCGGCGGCGGCCCAGGCTGCGCAGGCCGAGGCGGCCGACTCGTGGTACCTGGCGCTTCTGGGCTTCGCTGAGCAC
TTCCGCACTTCCAGCCCGCCCAAAATCCGCCTGTGCGTGCACTGCCTGCAGGCCGTGTTCCCCTTCAAGCCGCCGCAGCGCATCGAGGCCCGTACACACCTGCAG
CTGGGCTCCGTTCTCTATCACCACACCAAGAACAGCGAGCAGGCGCGCAGCCACCTGGAGAAGGCGTGGTTGATATCACAGCAAATCCCGCAGTTCGAAGATGTT
AAATTTGAAGCAGCAAGTCTGTTGTCTGAATTGTACTGTCAAGAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACC
CCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTCAACTGCACACGCTTGAGAAGGACCTGGTGTCGGCCTGTGACCTCCTGGGTGTAGGGGCCGAGTACGCC
CGGGTGGTGGGATCTGAATACACACGGGCGCTGTTCCTCCTCAGCAAGGGGATGCTGCTGCTGATGGAGCGAAAGCTGCAGGAGGTGCACCCGCTGCTGACCCTC
TGCGGGCAGATCGTGGAGAACTGGCAGGGGAACCCCATCCAGAAGGAGTCGCTGCGTGTCTTCTTCCTGGTGCTCCAGGTCACCCACTATCTGGATGCCGGGCAG
GTGAAGAGCGTGAAGCCGTGTCTGAAGCAGCTGCAGCAGTGCATCCAGACCATCTCCACACTGCACGATGATGAGATCCTGCCCAGCAACCCCGCTGACCTCTTC
CACTGGCTGCCCAAGGAGCACATGTGTGTGCTTGTCTACCTGGTGACTGTGATGCACTCCATGCAGGCCGGCTACCTGGAGAAGGCGCAGAAGTACACGGACAAG
GCCCTCATGCAGCTGGAGAAGCTCAAGATGCTGGACTGCAGCCCCATCCTGTCATCCTTCCAAGTGATCCTGCTGGAGCACATCATCATGTGCCGCCTTGTCACG
GGTCACAAGGCCACGGCGCTGCAGGAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTG
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>MAU2|23383|protein
MAAQAAAAAQAAAAQAAQAEAADSWYLALLGFAEHFRTSSPPKIRLCVHCLQAVFPFKPPQRIEARTHLQLGSVLYHHTKNSEQARSHLEKAWLISQQIPQFEDV
KFEAASLLSELYCQENSVDAAKPLLRKAIQISQQTPYWHCRLLFQLAQLHTLEKDLVSACDLLGVGAEYARVVGSEYTRALFLLSKGMLLLMERKLQEVHPLLTL
CGQIVENWQGNPIQKESLRVFFLVLQVTHYLDAGQVKSVKPCLKQLQQCIQTISTLHDDEILPSNPADLFHWLPKEHMCVLVYLVTVMHSMQAGYLEKAQKYTDK
ALMQLEKLKMLDCSPILSSFQVILLEHIIMCRLVTGHKATALQEISQVCQLCQQSPRLFSNHAAQLHTLLGLYCVSVNCMDNAEAQFTTALRLTNHQELWAFIVT
NLASVYIREGNRHQEVLYSLLERINPDHSFPVSSHCLRAAAFYVRGLFSFFQGRYNEAKRFLRETLKMSNAEDLNRLTACSLVLLGHIFYVLGNHRESNNMVVPA
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top