AutismKB 2.0

Evidence Details for HYAL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HYAL1 ( HYAL-1,LUCA1,MGC45987,NAT6 )
Gene Full Name: hyaluronoglucosaminidase 1
Band: 3p21.31
Quick LinksEntrez ID:3373; OMIM: 607071; Uniprot ID:HYAL1_HUMAN; ENSEMBL ID: ENSG00000114378; HGNC ID: 5320
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HYAL1|3373|nucleotide
ATGGCAGCCCACCTGCTTCCCATCTGCGCCCTCTTCCTGACCTTACTCGATATGGCCCAAGGCTTTAGGGGCCCCTTGCTACCCAACCGGCCCTTCACCACCGTC
TGGAATGCAAACACCCAGTGGTGCCTGGAGAGGCACGGTGTGGACGTGGATGTCAGTGTCTTCGATGTGGTAGCCAACCCAGGGCAGACCTTCCGCGGCCCTGAC
ATGACAATTTTCTATAGCTCCCAGCTGGGCACCTACCCCTACTACACGCCCACTGGGGAGCCTGTGTTTGGTGGTCTGCCCCAGAATGCCAGCCTGATTGCCCAC
CTGGCCCGCACATTCCAGGACATCCTGGCTGCCATACCTGCTCCTGACTTCTCAGGGCTGGCAGTCATCGACTGGGAGGCATGGCGCCCACGCTGGGCCTTCAAC
TGGGACACCAAGGACATTTACCGGCAGCGCTCACGGGCACTGGTACAGGCACAGCACCCTGATTGGCCAGCTCCTCAGGTGGAGGCAGTAGCCCAGGACCAGTTC
CAGGGAGCTGCACGGGCCTGGATGGCAGGCACCCTCCAGCTGGGGCGGGCACTGCGTCCTCGCGGCCTCTGGGGCTTCTATGGCTTCCCTGACTGCTACAACTAT
GACTTTCTAAGCCCCAACTACACCGGCCAGTGCCCATCAGGCATCCGTGCCCAAAATGACCAGCTAGGGTGGCTGTGGGGCCAGAGCCGTGCCCTCTATCCCAGC
ATCTACATGCCCGCAGTGCTGGAGGGCACAGGGAAGTCACAGATGTATGTGCAACACCGTGTGGCCGAGGCATTCCGTGTGGCTGTGGCTGCTGGTGACCCCAAT
CTGCCGGTGCTGCCCTATGTCCAGATCTTCTATGACACGACAAACCACTTTCTGCCCCTGGATGAGCTGGAGCACAGCCTGGGGGAGAGTGCGGCCCAGGGGGCA
GCTGGAGTGGTGCTCTGGGTGAGCTGGGAAAATACAAGAACCAAGGAATCATGTCAGGCCATCAAGGAGTATATGGACACTACACTGGGGCCCTTCATCCTGAAC
GTGACCAGTGGGGCCCTTCTCTGCAGTCAAGCCCTGTGCTCCGGCCATGGCCGCTGTGTCCGCCGCACCAGCCACCCCAAAGCCCTCCTCCTCCTTAACCCTGCC
Show »

>HYAL1|3373|protein
MAAHLLPICALFLTLLDMAQGFRGPLLPNRPFTTVWNANTQWCLERHGVDVDVSVFDVVANPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAH
LARTFQDILAAIPAPDFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAARAWMAGTLQLGRALRPRGLWGFYGFPDCYNY
DFLSPNYTGQCPSGIRAQNDQLGWLWGQSRALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPLDELEHSLGESAAQGA
AGVVLWVSWENTRTKESCQAIKEYMDTTLGPFILNVTSGALLCSQALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRC
YPGWQAPWCERKSMW
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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top