AutismKB 2.0

Evidence Details for HAP1


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Basic Information Top
Gene Symbol:HAP1 ( HAP2,HIP5,HLP,hHLP1 )
Gene Full Name: huntingtin-associated protein 1
Band: 17q21.2
Quick LinksEntrez ID:9001; OMIM: 600947; Uniprot ID:HAP1_HUMAN; ENSEMBL ID: ENSG00000173805; HGNC ID: 4812
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HAP1|9001|nucleotide
ATGCGCCCGAAGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCG
GAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCG
GCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCCCGACAATTCGGACGCGCCGTGGACC
CGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAGACGCCAGCCGCCTACGTTGGCCGGCGACCC
GGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCACTGTGTCCTAACCTACCTCCGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAA
GTGATGTTATATTTGCTGGAGGAGGTGTGTACTGCCTTCCTGATCCAGCTTCTCCCACCTGTCTGGGAGAGCGTTACCTATGGGATGGTCCTGCAGAGAGAGAGG
GACCTGAACACTGCAGCTCGCATCGGCCAGTCCCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCCCTGCTGGGCTCAGCCAAGGAG
GAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCTACTCAGATTCTGATGAGGAGGATGAGGATGAAGAAGAGGAGGAGGAAGAA
AAGGAGGCAGAAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATGCCCCTAAGCTGATTTCGCAGGAGGCATTGCTGCAC
CAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAG
GATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTCGGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTAT
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>HAP1|9001|protein
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWT
RFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEEVCTAFLIQLLPPVWESVTYGMVLQRER
DLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLH
QHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMETLPGFQETLAE
ELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEE
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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 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top