Evidence Details for AKIRIN2
Basic Information Top
| Gene Symbol: | AKIRIN2 ( C6orf166,FBI1,FLJ10342,dJ486L4.2 ) |
|---|---|
| Gene Full Name: | akirin 2 |
| Band: | 6q15 |
| Quick Links | Entrez ID:55122; OMIM: NA; Uniprot ID:AKIR2_HUMAN; ENSEMBL ID: ENSG00000135334; HGNC ID: 21407 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AKIRIN2|55122|nucleotide
ATGGCGTGCGGAGCCACTCTGAAAAGGACTCTGGATTTCGACCCGCTGTTGAGCCCGGCGTCCCCGAAGCGCAGGCGATGTGCGCCATTGTCGGCGCCCACCTCG
GCCGCTGCCTCCCCGTTGTCGGCGGCCGCGGCCACCGCCGCCTCCTTCTCCGCTGCGGCCGCCTCGCCGCAGAAGTATCTCCGAATGGAGCCATCCCCCTTCGGC
GACGTCTCCTCCCGCCTCACCACAGAACAAATTCTGTACAACATAAAACAAGAGTATAAACGAATGCAGAAGAGAAGACATTTAGAAACGAGTTTCCAACAGACA
GATCCGTGTTGTACTTCTGATGCACAGCCACATGCATTTCTCCTCAGTGGACCAGCTTCACCAGGGACTTCATCTGCAGCATCCTCACCATTAAAAAAAGAACAG
CCCTTATTTACTCTACGGCAGGTTGGGATGATCTGTGAACGTTTGTTGAAAGAACGTGAAGAGAAAGTTCGAGAAGAATATGAAGAAATATTGAACACAAAACTT
GCAGAACAATATGATGCGTTTGTGAAGTTTACGCATGATCAAATAATGCGACGATATGGAGAACAGCCTGCTAGCTATGTTTCATGA
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ATGGCGTGCGGAGCCACTCTGAAAAGGACTCTGGATTTCGACCCGCTGTTGAGCCCGGCGTCCCCGAAGCGCAGGCGATGTGCGCCATTGTCGGCGCCCACCTCG
GCCGCTGCCTCCCCGTTGTCGGCGGCCGCGGCCACCGCCGCCTCCTTCTCCGCTGCGGCCGCCTCGCCGCAGAAGTATCTCCGAATGGAGCCATCCCCCTTCGGC
GACGTCTCCTCCCGCCTCACCACAGAACAAATTCTGTACAACATAAAACAAGAGTATAAACGAATGCAGAAGAGAAGACATTTAGAAACGAGTTTCCAACAGACA
GATCCGTGTTGTACTTCTGATGCACAGCCACATGCATTTCTCCTCAGTGGACCAGCTTCACCAGGGACTTCATCTGCAGCATCCTCACCATTAAAAAAAGAACAG
CCCTTATTTACTCTACGGCAGGTTGGGATGATCTGTGAACGTTTGTTGAAAGAACGTGAAGAGAAAGTTCGAGAAGAATATGAAGAAATATTGAACACAAAACTT
GCAGAACAATATGATGCGTTTGTGAAGTTTACGCATGATCAAATAATGCGACGATATGGAGAACAGCCTGCTAGCTATGTTTCATGA
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>AKIRIN2|55122|protein
MACGATLKRTLDFDPLLSPASPKRRRCAPLSAPTSAAASPLSAAAATAASFSAAAASPQKYLRMEPSPFGDVSSRLTTEQILYNIKQEYKRMQKRRHLETSFQQT
DPCCTSDAQPHAFLLSGPASPGTSSAASSPLKKEQPLFTLRQVGMICERLLKEREEKVREEYEEILNTKLAEQYDAFVKFTHDQIMRRYGEQPASYVS
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MACGATLKRTLDFDPLLSPASPKRRRCAPLSAPTSAAASPLSAAAATAASFSAAAASPQKYLRMEPSPFGDVSSRLTTEQILYNIKQEYKRMQKRRHLETSFQQT
DPCCTSDAQPHAFLLSGPASPGTSSAASSPLKKEQPLFTLRQVGMICERLLKEREEKVREEYEEILNTKLAEQYDAFVKFTHDQIMRRYGEQPASYVS
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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 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Quintela I, 2015 | - | - | - | - | autistic disorder | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Ma, 2007 | USA | SNP-based genomic screen |  |  | autism | 26 | - | 26 | - | - | - | - |
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 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.