Evidence Details for KIAA0564
Basic Information Top
| Gene Symbol: | KIAA0564 ( FLJ21779 ) |
|---|---|
| Gene Full Name: | KIAA0564 |
| Band: | 13q14.11 |
| Quick Links | Entrez ID:23078; OMIM: NA; Uniprot ID:K0564_HUMAN; ENSEMBL ID: ENSG00000102763; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KIAA0564|23078|nucleotide
ATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGT
GGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCT
AAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTTCAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGAT
GTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCTATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACC
ACTGAAACTGATCTCAAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTG
GAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAG
CGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGCTTGCCAGTG
CCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAGGACCAACTTAAGTTGTTATATTCA
ATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTA
GATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAA
GGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAAC
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ATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGT
GGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCT
AAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTTCAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGAT
GTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCTATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACC
ACTGAAACTGATCTCAAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTG
GAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAG
CGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGCTTGCCAGTG
CCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAGGACCAACTTAAGTTGTTATATTCA
ATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTA
GATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAA
GGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAAC
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>KIAA0564|23078|protein
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQD
VFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAE
RYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPL
DSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDR
FIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLA
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MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQD
VFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAE
RYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPL
DSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDR
FIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLA
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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 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | 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| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band | | | autism | - | - | - | - | 1 | - | 1 |
| Cusco, 2008 | Spanish | aCGH | | | ASD | - | - | - | - | 96 | 100 | 196 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS 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.