AutismKB 2.0

Evidence Details for MUM1


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Basic Information Top
Gene Symbol:MUM1 ( EXPAND1,FLJ14868,FLJ22283,HSPC211,MGC131891,MGC163315,MUM-1 )
Gene Full Name: melanoma associated antigen (mutated) 1
Band: 19p13.3
Quick LinksEntrez ID:84939; OMIM: NA; Uniprot ID:MUM1_HUMAN; ENSEMBL ID: ENSG00000160953; HGNC ID: 29641
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUM1|84939|nucleotide
ATGATGGCGGATGCCAAGTATGTCCTCTGCCGATGGGAAAAGCGATTATGGCCTGCGAAGGTTTTGGCCCGAACCGCGACTTCAACAAAAAATAAGAGAAGAAAG
GAATATTTTCTAGCTGTGCAAATCCTCTCTCTAGAGGAAAAAATTAAGGTGAAAAGCACTGAAGTTGAGATCCTAGAGAAGTCTCAAATTGAAGCCATTGCTTCC
TCGTTAGCCTCACAGAATGAGGTTCCTGCGGCACCCCTGGAAGAACTGGCCTACAGACGGTCGCTTCGCGTGGCTCTGGACGTTCTGAGCGAGGGCTCGATTTGG
AGTCAAGAAAGCTCTGCAGGGACAGGTAGAGCTGACCGGTCTCTGCGAGGGAAGCCCATGGAGCATGTCTCCTCGCCCTGTGATTCGAACTCCTCATCTCTTCCC
CGCGGAGACGTGTTGGGCAGTTCCAGACCTCACAGGAGGAGGCCATGTGTGCAACAAAGCCTGTCAAGTTCGTTCACTTGTGAAAAGGACCCCGAGTGCAAAGTG
GACCACAAGAAGGGGCTCAGGAAAAGTGAAAACCCAAGAGGCCCGTTGGTCCTCCCAGCTGGAGGTGGTGCCCAAGATGAGAGTGGGTCCAGAATCCACCACAAA
AATTGGACTCTTGCAAGTAAGAGGGGAGGAAACTCAGCGCAGAAGGCTAGCTTGTGCCTGAATGGATCTTCCCTTTCAGAGGACGACACGGAGAGAGACATGGGG
AGCAAAGGAGGCAGCTGGGCAGCCCCGTCCTTGCCCTCCGGGGTCAGGGAGGACGATCCCTGTGCCAACGCTGAGGGACACGACCCCGGTCTGCCGTTGGGCAGC
CTCACTGCGCCCCCAGCCCCTGAGCCCTCGGCCTGCTCAGAGCCTGGAGAATGCCCTGCGAAAAAGAGGCCGCGCCTGGATGGCAGCCAAAGGCCGCCTGCCGTG
CAGCTGGAGCCCATGGCAGCAGGGGCCGCACCATCCCCCGGGCCGGGGCCAGGGCCCAGAGAGTCTGTGACCCCGCGCAGCACCGCCAGGCTGGGCCCGCCTCCC
TCCCACGCCTCTGCGGATGCAACCAGATGTCTTCCTTGCCCGGATTCCCAGAAGCTGGAGAAAGAGTGCCAGTCTTCCGAAGAGTCCATGGGGTCTAATTCCATG
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>MUM1|84939|protein
MMADAKYVLCRWEKRLWPAKVLARTATSTKNKRRKEYFLAVQILSLEEKIKVKSTEVEILEKSQIEAIASSLASQNEVPAAPLEELAYRRSLRVALDVLSEGSIW
SQESSAGTGRADRSLRGKPMEHVSSPCDSNSSSLPRGDVLGSSRPHRRRPCVQQSLSSSFTCEKDPECKVDHKKGLRKSENPRGPLVLPAGGGAQDESGSRIHHK
NWTLASKRGGNSAQKASLCLNGSSLSEDDTERDMGSKGGSWAAPSLPSGVREDDPCANAEGHDPGLPLGSLTAPPAPEPSACSEPGECPAKKRPRLDGSQRPPAV
QLEPMAAGAAPSPGPGPGPRESVTPRSTARLGPPPSHASADATRCLPCPDSQKLEKECQSSEESMGSNSMRSILEEDEEDEEPPRVLLYHEPRSFEVGMLVWHKH
KKYPFWPAVVKSVRQRDKKASVLYIEGHMNPKMKGFTVSLKSLKHFDCKEKQTLLNQAREDFNQDIGWCVSLITDYRVRLGCGSFAGSFLEYYAADISYPVRKSI
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (3)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top