AutismKB 2.0

Evidence Details for HACE1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HACE1 ( - )
Gene Full Name: HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Band: 6q16.3
Quick LinksEntrez ID:57531; OMIM: 610876; Uniprot ID:HACE1_HUMAN; ENSEMBL ID: ENSG00000085382; HGNC ID: 21033
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HACE1|57531|nucleotide
ATGGAGAGAGCGATGGAGCAACTCAACCGCCTGACGCGCTCGCTGCGCCGCGCGCGCACCGTGGAGTTGCCCGAGGATAATGAAACTGCTGTTTATACATTAATG
CCAATGGTTATGGCTGATCAACACAGGTCTGTTTCTGAACTACTATCAAATTCAAAATTTGATGTCAATTATGCATTCGGACGTGTGAAAAGAAGCTTGCTTCAC
ATTGCAGCAAATTGTGGATCGGTGGAATGCTTGGTTTTGCTGTTAAAGAAAGGAGCAAATCCTAACTATCAAGATATTTCAGGCTGTACACCCCTTCATTTGGCA
GCAAGAAATGGGCAGAAGAAATGTATGAGTAAATTATTAGAATATAGCGCTGATGTCAACATTTGTAATAATGAAGGCCTTACAGCAATACATTGGCTGGCTGTG
AATGGGCGGACAGAACTACTCCATGACCTTGTGCAGCATGTCAGTGATGTTGATGTTGAGGATGCCATGGGGCAGACAGCACTGCATGTTGCCTGCCAGAACGGT
CACAAGACGACAGTGCAGTGCTTGCTAGACAGTGGTGCTGATATTAACAGGCCAAATGTATCAGGAGCAACTCCATTGTACTTTGCTTGCAGTCATGGTCAGAGA
GATACAGCACAGATCCTACTATTACGAGGAGCCAAATATCTGCCAGATAAAAATGGAGTAACTCCTCTGGATTTATGTGTACAGGGTGGATATGGAGAGACTTGT
GAAGTATTAATTCAATATCACCCGAGGCTTTTTCAGACTATTATTCAAATGACACAGAATGAAGACCTCCGAGAAAACATGTTACGGCAAGTTCTGGAGCATTTG
TCTCAGCAAAGTGAAAGCCAGTACCTAAAGATTCTAACAAGCCTTGCTGAAGTTGCTACAACAAATGGTCATAAACTGCTTAGCCTCTCTAGCAATTATGATGCT
CAAATGAAGAGCCTTTTAAGGATTGTGAGAATGTTTTGTCACGTCTTTCGAATTGGTCCATCCTCCCCCAGTAATGGAATTGATATGGGCTACAATGGGAATAAA
ACTCCAAGAAGCCAGGTGTTCAAGCCTCTGGAATTGCTTTGGCACTCGTTAGATGAATGGCTAGTTTTAATAGCCACAGAATTGATGAAAAACAAAAGAGACTCA
Show »

>HACE1|57531|protein
MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYAFGRVKRSLLHIAANCGSVECLVLLLKKGANPNYQDISGCTPLHLA
ARNGQKKCMSKLLEYSADVNICNNEGLTAIHWLAVNGRTELLHDLVQHVSDVDVEDAMGQTALHVACQNGHKTTVQCLLDSGADINRPNVSGATPLYFACSHGQR
DTAQILLLRGAKYLPDKNGVTPLDLCVQGGYGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHLSQQSESQYLKILTSLAEVATTNGHKLLSLSSNYDA
QMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNKTPRSQVFKPLELLWHSLDEWLVLIATELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLS
TGTRESKPDALAGRQEASADCQDVISMTANRLSAVIQAFYMCCSCQMPPGMTSPRFIEFVCKHDEVLKCFVNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFK
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 (1) 0 (0) 0 (1) 0 (0) 0 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top