AutismKB 2.0

Evidence Details for HAT1


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Basic Information Top
Gene Symbol:HAT1 ( KAT1 )
Gene Full Name: histone acetyltransferase 1
Band: 2q31.1
Quick LinksEntrez ID:8520; OMIM: 603053; Uniprot ID:HAT1_HUMAN; ENSEMBL ID: ENSG00000128708; HGNC ID: 4821
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HAT1|8520|nucleotide
ATGGCGGGATTTGGTGCTATGGAGAAATTTTTGGTAGAATATAAGAGTGCAGTGGAGAAGAAACTGGCAGAGTACAAATGTAACACCAACACAGCAATTGAACTA
AAATTAGTTCGTTTTCCTGAAGATCTTGAAAATGACATTAGAACTTTCTTTCCTGAGTATACCCATCAACTCTTTGGGGATGATGAAACTGCTTTTGGTTACAAG
GGTCTAAAGATCCTGTTATACTATATTGCTGGTAGCCTGTCAACAATGTTCCGTGTTGAATATGCATCTAAAGTTGATGAGAACTTTGACTGTGTAGAGGCAGAT
GATGTTGAGGGCAAAATTAGACAAATCATTCCACCTGGATTTTGCACAAACACGAATGATTTCCTTTCTTTACTGGAAAAGGAAGTTGATTTCAAGCCATTCGGA
ACCTTACTTCATACCTACTCAGTTCTCAGTCCAACAGGAGGAGAAAACTTTACCTTTCAGATATATAAGGCTGACATGACATGTAGAGGCTTTCGAGAATATCAT
GAAAGGCTTCAGACCTTTTTGATGTGGTTTATTGAAACTGCTAGCTTTATTGACGTGGATGATGAAAGATGGCACTACTTTCTAGTATTTGAGAAGTATAATAAG
GATGGAGCTACGCTCTTTGCGACCGTAGGCTACATGACAGTCTATAATTACTATGTGTACCCAGACAAAACCCGGCCACGTGTAAGTCAGATGCTGATTTTGACT
CCATTTCAAGGTCAAGGCCATGGTGCTCAACTTCTTGAAACAGTTCATAGATACTACACTGAATTTCCTACAGTTCTTGATATTACAGCGGAAGATCCATCCAAA
AGCTATGTGAAATTACGAGACTTTGTGCTTGTGAAGCTTTGTCAAGATTTGCCCTGTTTTTCCCGGGAAAAATTAATGCAAGGATTCAATGAAGATATGGCGATA
GAGGCACAACAGAAGTTCAAAATAAATAAGCAACACGCTAGAAGGGTTTATGAAATTCTTCGACTACTGGTAACTGACATGAGTGATGCCGAACAATACAGAAGC
TACAGACTGGATATTAAAAGAAGACTAATTAGCCCATATAAGAAAAAGCAGAGAGATCTTGCTAAGATGAGAAAATGTCTCAGACCAGAAGAACTGACAAACCAG
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>HAT1|8520|protein
MAGFGAMEKFLVEYKSAVEKKLAEYKCNTNTAIELKLVRFPEDLENDIRTFFPEYTHQLFGDDETAFGYKGLKILLYYIAGSLSTMFRVEYASKVDENFDCVEAD
DVEGKIRQIIPPGFCTNTNDFLSLLEKEVDFKPFGTLLHTYSVLSPTGGENFTFQIYKADMTCRGFREYHERLQTFLMWFIETASFIDVDDERWHYFLVFEKYNK
DGATLFATVGYMTVYNYYVYPDKTRPRVSQMLILTPFQGQGHGAQLLETVHRYYTEFPTVLDITAEDPSKSYVKLRDFVLVKLCQDLPCFSREKLMQGFNEDMAI
EAQQKFKINKQHARRVYEILRLLVTDMSDAEQYRSYRLDIKRRLISPYKKKQRDLAKMRKCLRPEELTNQMNQIEISMQHEQLEESFQELVEDYRRVIERLAQE

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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 (2) 0 (0) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Anney, 2010_2 Replication Illumina Human 1M-single Infinium BeadChip 595 1086
(-)
ASD -
-
-
-
Anney, 2010_1 Discovery Illumina Human 1M-single Infinium BeadChip 1369 1385
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top