Evidence Details for HAT1
Basic Information Top
| Gene Symbol: | HAT1 ( KAT1 ) |
|---|---|
| Gene Full Name: | histone acetyltransferase 1 |
| Band: | 2q31.1 |
| Quick Links | Entrez 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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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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MAGFGAMEKFLVEYKSAVEKKLAEYKCNTNTAIELKLVRFPEDLENDIRTFFPEYTHQLFGDDETAFGYKGLKILLYYIAGSLSTMFRVEYASKVDENFDCVEAD
DVEGKIRQIIPPGFCTNTNDFLSLLEKEVDFKPFGTLLHTYSVLSPTGGENFTFQIYKADMTCRGFREYHERLQTFLMWFIETASFIDVDDERWHYFLVFEKYNK
DGATLFATVGYMTVYNYYVYPDKTRPRVSQMLILTPFQGQGHGAQLLETVHRYYTEFPTVLDITAEDPSKSYVKLRDFVLVKLCQDLPCFSREKLMQGFNEDMAI
EAQQKFKINKQHARRVYEILRLLVTDMSDAEQYRSYRLDIKRRLISPYKKKQRDLAKMRKCLRPEELTNQMNQIEISMQHEQLEESFQELVEDYRRVIERLAQE
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Evidence summary TopClick 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 (2) | 0 (0) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
Syndromic Autism Gene TopGenome-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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.