Evidence Details for ATPBD4
Basic Information Top
| Gene Symbol: | ATPBD4 ( MGC14798 ) |
|---|---|
| Gene Full Name: | ATP binding domain 4 |
| Band: | 15q14 |
| Quick Links | Entrez ID:89978; OMIM: NA; Uniprot ID:ATBD4_HUMAN; ENSEMBL ID: ENSG00000134146; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATPBD4|89978|nucleotide
ATGAGGGTCGCGGCTCTGATCAGTGGTGGGAAGGACAGCTGCTATAATATGATGCAGTGCATTGCTGCTGGGCATCAGATCGTTGCTTTAGCAAATCTAAGACCA
GCTGAAAACCAAGTGGGGTCTGATGAACTGGATAGCTACATGTATCAGACAGTGGGGCACCATGCCATTGACTTGTATGCAGAAGCAATGGCTCTTCCCCTCTAT
CGCCGAACCATAAGAGGAAGGAGCTTGGATACAAGACAAGTGTACACCAAATGTGAAGGTGATGAGGTTGAAGATCTCTATGAGCTTTTGAAACTTGTTAAGGGC
ATCACTAGAATGACCTTGCTTGCTGAATATGATGCTCTGAATCTCCAAGATTTTCACATGCATTTGAAAGTGGGCAGCCAGGCGATTGTTTACAGGACTCCAAAT
GAACTGTGCACTCACAGCAAGTTTGATAAACACACATTTCCTCCTTTTATCAGTGAGATTGCAAAATGTGAAGTATGA
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ATGAGGGTCGCGGCTCTGATCAGTGGTGGGAAGGACAGCTGCTATAATATGATGCAGTGCATTGCTGCTGGGCATCAGATCGTTGCTTTAGCAAATCTAAGACCA
GCTGAAAACCAAGTGGGGTCTGATGAACTGGATAGCTACATGTATCAGACAGTGGGGCACCATGCCATTGACTTGTATGCAGAAGCAATGGCTCTTCCCCTCTAT
CGCCGAACCATAAGAGGAAGGAGCTTGGATACAAGACAAGTGTACACCAAATGTGAAGGTGATGAGGTTGAAGATCTCTATGAGCTTTTGAAACTTGTTAAGGGC
ATCACTAGAATGACCTTGCTTGCTGAATATGATGCTCTGAATCTCCAAGATTTTCACATGCATTTGAAAGTGGGCAGCCAGGCGATTGTTTACAGGACTCCAAAT
GAACTGTGCACTCACAGCAAGTTTGATAAACACACATTTCCTCCTTTTATCAGTGAGATTGCAAAATGTGAAGTATGA
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>ATPBD4|89978|protein
MRVAALISGGKDSCYNMMQCIAAGHQIVALANLRPAENQVGSDELDSYMYQTVGHHAIDLYAEAMALPLYRRTIRGRSLDTRQVYTKCEGDEVEDLYELLKLVKG
ITRMTLLAEYDALNLQDFHMHLKVGSQAIVYRTPNELCTHSKFDKHTFPPFISEIAKCEV
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MRVAALISGGKDSCYNMMQCIAAGHQIVALANLRPAENQVGSDELDSYMYQTVGHHAIDLYAEAMALPLYRRTIRGRSLDTRQVYTKCEGDEVEDLYELLKLVKG
ITRMTLLAEYDALNLQDFHMHLKVGSQAIVYRTPNELCTHSKFDKHTFPPFISEIAKCEV
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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) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Philippe, 1999 | Sweden, France, Norway, Italy, Austria, Belgium, U | microsatellite-based genomic screen | | | autism | 51 | - | 51 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low 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 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.