Evidence Details for ATMIN
Basic Information Top
| Gene Symbol: | ATMIN ( ASCIZ,DKFZp779K1455,FLJ50270,FLJ61620,FLJ76795,KIAA0431,ZNF822 ) |
|---|---|
| Gene Full Name: | ATM interactor |
| Band: | 16q23.2 |
| Quick Links | Entrez ID:23300; OMIM: NA; Uniprot ID:ATMIN_HUMAN; ENSEMBL ID: ENSG00000166454; HGNC ID: 29034 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATMIN|23300|nucleotide
ATGGCGGCCTCGGAGGCGGCGGCGGCGGCGGGGTCCGCGGCTCTGGCGGCGGGTGCCCGGGCCGTCCCGGCGGCCACGACAGGAGCCGCCGCCGCCGCCTCGGGC
CCGTGGGTGCCCCCGGGACCCCGACTGAGGGGCAGCCGGCCGCGGCCCGCGGGGGCGACGCAGCAGCCCGCTGTCCCCGCGCCGCCGGCGGGGGAGCTGATCCAG
CCGTCGGTGAGCGAGCTGTCCCGGGCCGTGCGGACCAACATCCTGTGCACCGTGCGCGGCTGCGGCAAGATCCTGCCCAACAGCCCCGCGCTCAACATGCACCTA
GTCAAGAGCCACCGCCTGCAGGATGGCATAGTCAATCCAACAATAAGAAAAGATTTGAAAACTGGACCGAAATTCTACTGCTGTCCAATTGAAGGCTGCCCCAGA
GGCCCTGAGAGACCGTTTTCTCAGTTTTCTCTCGTAAAACAGCACTTTATGAAAATGCATGCTGAGAAGAAGCACAAATGTAGTAAGTGCAGCAATTCGTACGGT
ACAGAATGGGACCTGAAAAGACATGCAGAGGACTGTGGCAAGACCTTCCGGTGCACATGCGGCTGTCCCTACGCCAGTAGAACAGCACTGCAGTCTCACATCTAC
CGAACTGGGCACGAGATACCTGCAGAACACAGGGACCCACCTAGTAAGAAAAGGAAAATGGAAAACTGTGCACAAAACCAGAAGTTATCCAACAAGACCATTGAA
TCATTGAACAACCAACCAATCCCTAGACCAGACACTCAAGAACTAGAAGCTTCAGAAATAAAGCTAGAACCATCTTTTGAAGACTCTTGTGGCTCTAACACTGAC
AAGCAGACTCTTACAACACCACCGAGATATCCTCAGAAGTTGCTTTTACCAAAGCCCAAAGTGGCTTTGGTTAAACTACCCGTGATGCAGTTTTCTGTCATGCCT
GTCTTTGTGCCTACAGCCGACTCCTCAGCCCAGCCTGTGGTGTTAGGTGTTGATCAGGGCTCTGCCACAGGGGCTGTGCACTTAATGCCCTTGTCAGTAGGAACC
CTGATCCTCGGCCTAGATTCAGAGGCTTGCTCTCTTAAGGAGAGCCTACCTCTTTTCAAAATTGCTAATCCTATTGCTGGTGAGCCAATAAGTACTGGTGTTCAA
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ATGGCGGCCTCGGAGGCGGCGGCGGCGGCGGGGTCCGCGGCTCTGGCGGCGGGTGCCCGGGCCGTCCCGGCGGCCACGACAGGAGCCGCCGCCGCCGCCTCGGGC
CCGTGGGTGCCCCCGGGACCCCGACTGAGGGGCAGCCGGCCGCGGCCCGCGGGGGCGACGCAGCAGCCCGCTGTCCCCGCGCCGCCGGCGGGGGAGCTGATCCAG
CCGTCGGTGAGCGAGCTGTCCCGGGCCGTGCGGACCAACATCCTGTGCACCGTGCGCGGCTGCGGCAAGATCCTGCCCAACAGCCCCGCGCTCAACATGCACCTA
GTCAAGAGCCACCGCCTGCAGGATGGCATAGTCAATCCAACAATAAGAAAAGATTTGAAAACTGGACCGAAATTCTACTGCTGTCCAATTGAAGGCTGCCCCAGA
GGCCCTGAGAGACCGTTTTCTCAGTTTTCTCTCGTAAAACAGCACTTTATGAAAATGCATGCTGAGAAGAAGCACAAATGTAGTAAGTGCAGCAATTCGTACGGT
ACAGAATGGGACCTGAAAAGACATGCAGAGGACTGTGGCAAGACCTTCCGGTGCACATGCGGCTGTCCCTACGCCAGTAGAACAGCACTGCAGTCTCACATCTAC
CGAACTGGGCACGAGATACCTGCAGAACACAGGGACCCACCTAGTAAGAAAAGGAAAATGGAAAACTGTGCACAAAACCAGAAGTTATCCAACAAGACCATTGAA
TCATTGAACAACCAACCAATCCCTAGACCAGACACTCAAGAACTAGAAGCTTCAGAAATAAAGCTAGAACCATCTTTTGAAGACTCTTGTGGCTCTAACACTGAC
AAGCAGACTCTTACAACACCACCGAGATATCCTCAGAAGTTGCTTTTACCAAAGCCCAAAGTGGCTTTGGTTAAACTACCCGTGATGCAGTTTTCTGTCATGCCT
GTCTTTGTGCCTACAGCCGACTCCTCAGCCCAGCCTGTGGTGTTAGGTGTTGATCAGGGCTCTGCCACAGGGGCTGTGCACTTAATGCCCTTGTCAGTAGGAACC
CTGATCCTCGGCCTAGATTCAGAGGCTTGCTCTCTTAAGGAGAGCCTACCTCTTTTCAAAATTGCTAATCCTATTGCTGGTGAGCCAATAAGTACTGGTGTTCAA
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>ATMIN|23300|protein
MAASEAAAAAGSAALAAGARAVPAATTGAAAAASGPWVPPGPRLRGSRPRPAGATQQPAVPAPPAGELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHL
VKSHRLQDGIVNPTIRKDLKTGPKFYCCPIEGCPRGPERPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIY
RTGHEIPAEHRDPPSKKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSVMP
VFVPTADSSAQPVVLGVDQGSATGAVHLMPLSVGTLILGLDSEACSLKESLPLFKIANPIAGEPISTGVQVNFGKSPSNPLQELGNTCQKNSISSINVQTDLSYA
SQNFIPSAQWATADSSVSSCSQTDLSFDSQVSLPISVHTQTFLPSSKVTSSIAAQTDAFMDTCFQSGGVSRETQTSGIESPTDDHVQMDQAGMCGDIFESVHSSY
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MAASEAAAAAGSAALAAGARAVPAATTGAAAAASGPWVPPGPRLRGSRPRPAGATQQPAVPAPPAGELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHL
VKSHRLQDGIVNPTIRKDLKTGPKFYCCPIEGCPRGPERPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIY
RTGHEIPAEHRDPPSKKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSVMP
VFVPTADSSAQPVVLGVDQGSATGAVHLMPLSVGTLILGLDSEACSLKESLPLFKIANPIAGEPISTGVQVNFGKSPSNPLQELGNTCQKNSISSINVQTDLSYA
SQNFIPSAQWATADSSVSSCSQTDLSFDSQVSLPISVHTQTFLPSSKVTSSIAAQTDAFMDTCFQSGGVSRETQTSGIESPTDDHVQMDQAGMCGDIFESVHSSY
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | |||||||||||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
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 | ||||||
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies TopLow 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.