Evidence Details for ANKRD12
Basic Information Top
| Gene Symbol: | ANKRD12 ( ANCO-2,ANCO1,FLJ20053,GAC-1,KIAA0874,Nbla00144 ) |
|---|---|
| Gene Full Name: | ankyrin repeat domain 12 |
| Band: | 18p11.22 |
| Quick Links | Entrez ID:23253; OMIM: 610616; Uniprot ID:ANR12_HUMAN; ENSEMBL ID: ENSG00000101745; HGNC ID: 29135 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ANKRD12|23253|nucleotide
ATGCCCAAATCTGGGTTCACAAAACCAATTCAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGAGTAAAGACAAGATTGCA
TCCTACAGCAAAACTCCAAAAATTGAACGAAGTGATGTGAGCAAGGAGATGAAAGAGAAATCATCCATGAAACGTAAACTTCCTTTTACTATTAGCCCATCAAGA
AATGAAGAACGAGATTCAGACACAGAGAAAGAAGGTCCAGAAAAGAAGAAGACAAAAAAGGAAGCTGGAAATAAGAAATCCACACCAGTTAGCATTCTTTTTGGT
TATCCACTCTCTGAGCGAAAACAGATGGCACTTCTTATGCAGATGACAGCAAGAGACAACAGTCCAGATTCCACACCAAATCATCCATCACAAACAACGCCTGCC
CAAAAGAAAACTCCCAGTTCTTCATCTCGACAGAAAGATAAAGTTAATAAAAGAAATGAACGTGGTGAAACTCCTTTACACATGGCTGCTATTCGAGGAGATGTG
AAACAAGTTAAAGAATTAATAAGTTTAGGGGCAAATGTGAATGTGAAAGATTTTGCAGGTTGGACACCACTGCATGAAGCTTGCAATGTTGGATATTACGATGTT
GCTAAGATACTTATAGCAGCTGGAGCAGATGTTAACACACAAGGATTAGATGATGACACTCCACTCCATGATTCTGCTAGTAGTGGGCACAGAGATATAGTAAAG
CTGTTACTTCGTCACGGTGGAAATCCATTTCAAGCTAATAAACATGGGGAGCGTCCAGTGGATGTAGCAGAAACAGAGGAGTTGGAGTTGCTACTAAAAAGAGAG
GTGCCTTTATCTGATGATGATGAAAGTTACACAGATTCCGAAGAGGCTCAATCTGTAAATCCTTCTAGTGTTGATGAAAATATTGACTCTGAAACAGAGAAAGAC
TCTCTCATCTGTGAAAGTAAACAGATACTTCCCAGTAAAACACCTCTTCCATCTGCCCTTGATGAGTATGAGTTCAAAGATGATGATGATGAAGAAATTAATAAG
ATGATTGATGATAGGCATATTCTTAGGAAAGAACAACGAAAAGAAAATGAACCTGAAGCAGAAAAAACTCATTTATTTGCAAAACAGGAGAAAGCCTTCTATCCT
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ATGCCCAAATCTGGGTTCACAAAACCAATTCAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGAGTAAAGACAAGATTGCA
TCCTACAGCAAAACTCCAAAAATTGAACGAAGTGATGTGAGCAAGGAGATGAAAGAGAAATCATCCATGAAACGTAAACTTCCTTTTACTATTAGCCCATCAAGA
AATGAAGAACGAGATTCAGACACAGAGAAAGAAGGTCCAGAAAAGAAGAAGACAAAAAAGGAAGCTGGAAATAAGAAATCCACACCAGTTAGCATTCTTTTTGGT
TATCCACTCTCTGAGCGAAAACAGATGGCACTTCTTATGCAGATGACAGCAAGAGACAACAGTCCAGATTCCACACCAAATCATCCATCACAAACAACGCCTGCC
CAAAAGAAAACTCCCAGTTCTTCATCTCGACAGAAAGATAAAGTTAATAAAAGAAATGAACGTGGTGAAACTCCTTTACACATGGCTGCTATTCGAGGAGATGTG
AAACAAGTTAAAGAATTAATAAGTTTAGGGGCAAATGTGAATGTGAAAGATTTTGCAGGTTGGACACCACTGCATGAAGCTTGCAATGTTGGATATTACGATGTT
GCTAAGATACTTATAGCAGCTGGAGCAGATGTTAACACACAAGGATTAGATGATGACACTCCACTCCATGATTCTGCTAGTAGTGGGCACAGAGATATAGTAAAG
CTGTTACTTCGTCACGGTGGAAATCCATTTCAAGCTAATAAACATGGGGAGCGTCCAGTGGATGTAGCAGAAACAGAGGAGTTGGAGTTGCTACTAAAAAGAGAG
GTGCCTTTATCTGATGATGATGAAAGTTACACAGATTCCGAAGAGGCTCAATCTGTAAATCCTTCTAGTGTTGATGAAAATATTGACTCTGAAACAGAGAAAGAC
TCTCTCATCTGTGAAAGTAAACAGATACTTCCCAGTAAAACACCTCTTCCATCTGCCCTTGATGAGTATGAGTTCAAAGATGATGATGATGAAGAAATTAATAAG
ATGATTGATGATAGGCATATTCTTAGGAAAGAACAACGAAAAGAAAATGAACCTGAAGCAGAAAAAACTCATTTATTTGCAAAACAGGAGAAAGCCTTCTATCCT
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>ANKRD12|23253|protein
MPKSGFTKPIQSENSDSDSNMVEKPYGRKSKDKIASYSKTPKIERSDVSKEMKEKSSMKRKLPFTISPSRNEERDSDTEKEGPEKKKTKKEAGNKKSTPVSILFG
YPLSERKQMALLMQMTARDNSPDSTPNHPSQTTPAQKKTPSSSSRQKDKVNKRNERGETPLHMAAIRGDVKQVKELISLGANVNVKDFAGWTPLHEACNVGYYDV
AKILIAAGADVNTQGLDDDTPLHDSASSGHRDIVKLLLRHGGNPFQANKHGERPVDVAETEELELLLKREVPLSDDDESYTDSEEAQSVNPSSVDENIDSETEKD
SLICESKQILPSKTPLPSALDEYEFKDDDDEEINKMIDDRHILRKEQRKENEPEAEKTHLFAKQEKAFYPKSFKSKKQKPSRVLYSSTESSDEEALQNKKISTSC
SVIPETSNSDMQTKKEYVVSGEHKQKGKVKRKLKNQNKNKENQELKQEKEGKENTRITNLTVNTGLDCSEKTREEGNFRKSFSPKDDTSLHLFHISTGKSPKHSC
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MPKSGFTKPIQSENSDSDSNMVEKPYGRKSKDKIASYSKTPKIERSDVSKEMKEKSSMKRKLPFTISPSRNEERDSDTEKEGPEKKKTKKEAGNKKSTPVSILFG
YPLSERKQMALLMQMTARDNSPDSTPNHPSQTTPAQKKTPSSSSRQKDKVNKRNERGETPLHMAAIRGDVKQVKELISLGANVNVKDFAGWTPLHEACNVGYYDV
AKILIAAGADVNTQGLDDDTPLHDSASSGHRDIVKLLLRHGGNPFQANKHGERPVDVAETEELELLLKREVPLSDDDESYTDSEEAQSVNPSSVDENIDSETEKD
SLICESKQILPSKTPLPSALDEYEFKDDDDEEINKMIDDRHILRKEQRKENEPEAEKTHLFAKQEKAFYPKSFKSKKQKPSRVLYSSTESSDEEALQNKKISTSC
SVIPETSNSDMQTKKEYVVSGEHKQKGKVKRKLKNQNKNKENQELKQEKEGKENTRITNLTVNTGLDCSEKTREEGNFRKSFSPKDDTSLHLFHISTGKSPKHSC
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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) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) |  | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
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.