AutismKB 2.0

Evidence Details for MST4


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Basic Information Top
Gene Symbol:MST4 ( MASK )
Gene Full Name: -
Band: Xq26.2
Quick LinksEntrez ID:51765; OMIM: 300547; Uniprot ID:MST4_HUMAN; ENSEMBL ID: ENSG00000134602; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MST4|51765|nucleotide
ATGGCCCACTCGCCGGTGGCTGTCCAAGTGCCTGGGATGCAGAATAACATAGCTGATCCAGAAGAACTGTTCACAAAATTAGAGCGCATTGGGAAAGGCTCATTT
GGGGAAGTTTTCAAAGGAATTGATAACCGTACCCAGCAAGTCGTTGCTATTAAAATCATAGACCTTGAGGAAGCCGAAGATGAAATAGAAGACATTCAGCAAGAA
ATAACTGTCTTGAGTCAATGTGACAGCTCATATGTAACAAAATACTATGGGTCATATTTAAAGGGGTCTAAATTATGGATAATAATGGAATACCTGGGCGGTGGT
TCAGCACTGGATCTTCTTCGAGCTGGTCCATTTGATGAGTTCCAGATTGCTACCATGCTAAAGGAAATTTTAAAAGGTCTGGACTATCTGCATTCAGAAAAGAAA
ATTCACCGAGACATAAAAGCTGCCAATGTCTTGCTCTCAGAACAAGGAGATGTTAAACTTGCTGATTTTGGAGTTGCTGGTCAGCTGACAGATACACAGATTAAA
AGAAATACCTTTGTGGGAACTCCATTTTGGATGGCTCCTGAAGTTATTCAACAGTCAGCTTATGACTCAAAACGTCCTACAGCAAAAGAACTTCTGAAACACAAA
TTCATTGTAAAAAATTCAAAGAAGACTTCTTATCTGACTGAACTGATAGATCGTTTTAAGAGATGGAAGGCAGAAGGACACAGTGATGATGAATCTGATTCCGAG
GGCTCTGATTCGGAATCTACCAGCAGGGAAAACAATACTCATCCTGAATGGAGCTTTACCACCGTACGAAAGAAGCCTGATCCAAAGAAAGTACAGAATGGGGCA
GAGCAAGATCTTGTGCAAACCCTGAGTTGTTTGTCTATGATAATCACACCTGCATTTGCTGAACTTAAACAGCAGGACGAGAATAACGCTAGCAGGAATCAGGCG
ATTGAAGAACTCGAGAAAAGTATTGCTGTGGCTGAAGCCGCCTGTCCCGGCATCACAGATAAAATGGTGAAGAAACTAATTGAAAAATTTCAAAAGTGTTCAGCA
GACGAATCCCCCTAA
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>MST4|51765|protein
MAHSPVAVQVPGMQNNIADPEELFTKLERIGKGSFGEVFKGIDNRTQQVVAIKIIDLEEAEDEIEDIQQEITVLSQCDSSYVTKYYGSYLKGSKLWIIMEYLGGG
SALDLLRAGPFDEFQIATMLKEILKGLDYLHSEKKIHRDIKAANVLLSEQGDVKLADFGVAGQLTDTQIKRNTFVGTPFWMAPEVIQQSAYDSKRPTAKELLKHK
FIVKNSKKTSYLTELIDRFKRWKAEGHSDDESDSEGSDSESTSRENNTHPEWSFTTVRKKPDPKKVQNGAEQDLVQTLSCLSMIITPAFAELKQQDENNASRNQA
IEELEKSIAVAEAACPGITDKMVKKLIEKFQKCSADESP

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top