AutismKB 2.0

Evidence Details for HGS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HGS ( HRS,Vps27,ZFYVE8 )
Gene Full Name: hepatocyte growth factor-regulated tyrosine kinase substrate
Band: 17q25.3
Quick LinksEntrez ID:9146; OMIM: 604375; Uniprot ID:HGS_HUMAN; ENSEMBL ID: ENSG00000185359; HGNC ID: 4897
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HGS|9146|nucleotide
ATGGGGCGAGGCAGCGGCACCTTCGAGCGTCTCCTAGACAAGGCGACCAGCCAGCTCCTGTTGGAGACAGATTGGGAGTCCATTTTGCAGATCTGCGACCTGATC
CGCCAAGGGGACACACAAGCAAAATATGCTGTGAATTCCATCAAGAAGAAAGTCAACGACAAGAACCCACACGTCGCCTTGTATGCCCTGGAGGTCATGGAATCT
GTGGTAAAGAACTGTGGCCAGACAGTTCATGATGAGGTGGCCAACAAGCAGACCATGGAGGAGCTGAAGGACCTGCTGAAGAGACAAGTGGAGGTAAACGTCCGT
AACAAGATCCTGTACCTGATCCAGGCCTGGGCGCATGCCTTCCGGAACGAGCCCAAGTACAAGGTGGTCCAGGACACCTACCAGATCATGAAGGTGGAGGGGCAC
GTCTTTCCAGAATTCAAAGAGAGCGATGCCATGTTTGCTGCCGAGAGAGCCCCAGACTGGGTGGACGCTGAGGAATGCCACCGCTGCAGGGTGCAGTTCGGGGTG
ATGACCCGTAAGCACCACTGCCGGGCGTGTGGGCAGATATTCTGTGGAAAGTGTTCTTCCAAGTACTCCACCATCCCCAAGTTTGGCATCGAGAAGGAGGTGCGC
GTGTGTGAGCCCTGCTACGAGCAGCTGAACAGGAAAGCGGAGGGAAAGGCCACTTCCACCACTGAGCTGCCCCCCGAGTACCTGACCAGCCCCCTGTCTCAGCAG
TCCCAGCTGCCCCCCAAGAGGGACGAGACGGCCCTGCAGGAGGAGGAGGAGCTGCAGCTGGCCCTGGCGCTGTCACAGTCAGAGGCGGAGGAGAAGGAGAGGCTG
AGACAGAAGTCCACGTACACTTCGTACCCCAAGGCGGAGCCCATGCCCTCGGCCTCCTCAGCGCCCCCCGCCAGCAGCCTGTACTCTTCACCTGTGAACTCGTCG
GCGCCTCTGGCTGAGGACATCGACCCTGAGCTCGCACGGTATCTCAACCGGAACTACTGGGAGAAGAAGCAGGAGGAGGCTCGCAAGAGCCCCACGCCATCTGCG
CCCGTGCCCCTGACGGAGCCGGCTGCACAGCCTGGGGAAGGGCACGCAGCCCCCACCAACGTGGTGGAGAACCCCCTCCCGGAGACAGACTCTCAGCCCATTCCT
Show »

>HGS|9146|protein
MGRGSGTFERLLDKATSQLLLETDWESILQICDLIRQGDTQAKYAVNSIKKKVNDKNPHVALYALEVMESVVKNCGQTVHDEVANKQTMEELKDLLKRQVEVNVR
NKILYLIQAWAHAFRNEPKYKVVQDTYQIMKVEGHVFPEFKESDAMFAAERAPDWVDAEECHRCRVQFGVMTRKHHCRACGQIFCGKCSSKYSTIPKFGIEKEVR
VCEPCYEQLNRKAEGKATSTTELPPEYLTSPLSQQSQLPPKRDETALQEEEELQLALALSQSEAEEKERLRQKSTYTSYPKAEPMPSASSAPPASSLYSSPVNSS
APLAEDIDPELARYLNRNYWEKKQEEARKSPTPSAPVPLTEPAAQPGEGHAAPTNVVENPLPETDSQPIPPSGGPFSEPQFHNGESEESHEQFLKALQNAVTTFV
NRMKSNHMRGRSITNDSAVLSLFQSINGMHPQLLELLNQLDERRLYYEGLQDKLAQIRDARGALSALREEHREKLRRAAEEAERQRQIQLAQKLEIMRQKKQEYL
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top