AutismKB 2.0

Evidence Details for AP4M1


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Basic Information Top
Gene Symbol:AP4M1 ( CPSQ3,MU-4,MU-ARP2 )
Gene Full Name: adaptor-related protein complex 4, mu 1 subunit
Band: 7q22.1
Quick LinksEntrez ID:9179; OMIM: 602296; Uniprot ID:AP4M1_HUMAN; ENSEMBL ID: ENSG00000221838; HGNC ID: 574
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AP4M1|9179|nucleotide
ATGATTTCCCAATTCTTCATTCTGTCCTCCAAGGGGGACCCGCTCATCTACAAAGACTTCCGCGGGGACAGTGGCGGCCGGGATGTGGCCGAGCTCTTCTACCGG
AAGCTGACGGGACTGCCAGGAGACGAGTCCCCGGTTGTCATGCATCACCATGGCCGTCATTTCATTCACATCAGACACAGCGGCCTCTATTTGGTGGTCACAACT
TCAGAAAACGTTTCTCCCTTCAGCCTCCTAGAACTGCTCTCCAGGTTGGCCACCCTTCTGGGCGATTACTGTGGCTCCCTGGGCGAGGGGACCATCTCCCGCAAT
GTGGCTCTGGTATACGAACTCCTGGATGAAGTGCTGGACTATGGCTATGTACAGACCACATCCACGGAGATGCTGAGGAATTTCATCCAGACGGAAGCTGTGGTC
AGCAAGCCCTTCAGCCTCTTTGACCTCAGCAGCGTTGGCTTGTTTGGGGCTGAGACACAACAGAGCAAAGTGGCCCCCAGCAGTGCAGCCAGCCGCCCCGTCCTG
TCCAGTCGCTCTGACCAGAGCCAAAAGAATGAAGTTTTTTTGGATGTGGTCGAGAGATTGTCTGTACTGATAGCATCTAATGGATCCCTGCTGAAGGTGGATGTG
CAGGGAGAGATTCGGCTCAAGAGCTTCCTTCCTAGCGGCTCTGAGATGCGCATTGGCTTGACGGAAGAGTTTTGTGTGGGGAAGTCAGAGCTGAGAGGTTATGGG
CCAGGAATCCGGGTCGATGAAGTCTCGTTTCACAGCTCTGTGAATCTGGACGAATTTGAGTCTCATCGAATCCTCCGCTTGCAACCACCTCAGGGCGAGCTGACT
GTGATGCGGTACCAACTCTCCGATGACCTCCCCTCACCGCTCCCCTTCCGGCTCTTCCCCTCTGTGCAGTGGGACCGAGGCTCAGGCCGGCTCCAGGTTTATCTA
AAGTTGCGATGTGACCTGCTCTCAAAGAGCCAAGCCCTCAATGTCAGGCTGCACCTCCCCCTGCCTCGAGGGGTGGTCAGCCTGTCTCAGGAGCTGAGCAGCCCA
GAGCAGAAGGCTGAGCTGGCAGAGGGAGCCCTTCGCTGGGACCTGCCTCGGGTGCAAGGAGGCTCTCAACTCTCAGGCCTTTTCCAGATGGACGTCCCAGGGCCC
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>AP4M1|9179|protein
MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRN
VALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDV
QGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYL
KLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQ
VRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI
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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) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top