Evidence Details for ABCA12
Basic Information Top
| Gene Symbol: | ABCA12 ( DKFZp434G232,FLJ41584,ICR2B,LI2 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family A (ABC1), member 12 |
| Band: | 2q35 |
| Quick Links | Entrez ID:26154; OMIM: 607800; Uniprot ID:ABCAC_HUMAN; ENSEMBL ID: ENSG00000144452; HGNC ID: 14637 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ABCA12|26154|nucleotide
ATGTTTACCTATATAAAAATTATTACTTCAGGTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATCTCCAAGCAGTCTGGCTGCA
CAGCTCCTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTACTTGGCATGTGTGAGAAATGTGACTGACAGTTTG
GCCAGAGGTTCACCAGAAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAAATCTTTTCTTCGCAATGGTTCCTATGAAGATTACTTTCCTCCAGTTCCT
GAAGTCCTAAAATCAAAACTGTCTCAACTTCGAAACTTGACCGAACTTCTTTGTGAATCTGAAACTTTCAGTTTGATAGAGAAGTCATGCCAGCTCTCTGATATG
AGCTTTGGGAGCCTGTGTGAAGAAAGTGAGTTTGATCTGCAACTCCTCGAAGCGGCAGAGCTGGGCACCGAAATAGCAGCCAGCTTACTGTACCATGACAATGTC
ATATCTAAAAAAGTGAGAGATTTGCTGACTGGAGATCCAAGCAAAATTAATTTAAATATGGATCAGTTTCTAGAACAGGCACTGCAAATGAATTACTTGGAAAAT
ATCACTCAGTTAATACCGATCATAGAAGCCATGCTGCATGTCAATAACAGTGCAGATGCTTCTGAAAAGCCAGGTCAGTTACTAGAAATGTTTAAAAATGTTGAA
GAGCTGAAAGAAGATTTAAGGAGAACAACAGGAATGTCCAACAGGACTATTGACAAGTTGCTGGCCATTCCCATCCCTGATAATAGAGCTGAGATTATTTCTCAG
GTGTTCTGGCTGCATTCCTGTGATACTAATATCACCACTCCCAAACTAGAAGATGCAATGAAAGAATTCTGCAACCTGTCTCTTTCAGAGAGATCCCGGCAGTCT
TACCTCATCGGACTCACCCTTCTGCACTACTTAAACATTTACAACTTCACATACAAGGTGTTTTTCCCGAGGAAAGATCAAAAGCCAGTAGAAAAGATGATGGAG
CTCTTCATAAGACTAAAAGAGATTCTCAATCAGATGGCTTCTGGCACACATCCGCTGCTAGACAAAATGAGATCCCTGAAGCAAATGCATCTGCCCAGAAGTGTT
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ATGTTTACCTATATAAAAATTATTACTTCAGGTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATCTCCAAGCAGTCTGGCTGCA
CAGCTCCTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTACTTGGCATGTGTGAGAAATGTGACTGACAGTTTG
GCCAGAGGTTCACCAGAAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAAATCTTTTCTTCGCAATGGTTCCTATGAAGATTACTTTCCTCCAGTTCCT
GAAGTCCTAAAATCAAAACTGTCTCAACTTCGAAACTTGACCGAACTTCTTTGTGAATCTGAAACTTTCAGTTTGATAGAGAAGTCATGCCAGCTCTCTGATATG
AGCTTTGGGAGCCTGTGTGAAGAAAGTGAGTTTGATCTGCAACTCCTCGAAGCGGCAGAGCTGGGCACCGAAATAGCAGCCAGCTTACTGTACCATGACAATGTC
ATATCTAAAAAAGTGAGAGATTTGCTGACTGGAGATCCAAGCAAAATTAATTTAAATATGGATCAGTTTCTAGAACAGGCACTGCAAATGAATTACTTGGAAAAT
ATCACTCAGTTAATACCGATCATAGAAGCCATGCTGCATGTCAATAACAGTGCAGATGCTTCTGAAAAGCCAGGTCAGTTACTAGAAATGTTTAAAAATGTTGAA
GAGCTGAAAGAAGATTTAAGGAGAACAACAGGAATGTCCAACAGGACTATTGACAAGTTGCTGGCCATTCCCATCCCTGATAATAGAGCTGAGATTATTTCTCAG
GTGTTCTGGCTGCATTCCTGTGATACTAATATCACCACTCCCAAACTAGAAGATGCAATGAAAGAATTCTGCAACCTGTCTCTTTCAGAGAGATCCCGGCAGTCT
TACCTCATCGGACTCACCCTTCTGCACTACTTAAACATTTACAACTTCACATACAAGGTGTTTTTCCCGAGGAAAGATCAAAAGCCAGTAGAAAAGATGATGGAG
CTCTTCATAAGACTAAAAGAGATTCTCAATCAGATGGCTTCTGGCACACATCCGCTGCTAGACAAAATGAGATCCCTGAAGCAAATGCATCTGCCCAGAAGTGTT
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>ABCA12|26154|protein
MFTYIKIITSGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVP
EVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLEN
ITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERSRQS
YLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEY
LTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWM
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MFTYIKIITSGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVP
EVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLEN
ITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERSRQS
YLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEY
LTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWM
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (3) |
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 | ||||||
| Pescucci, 2003 | - | STS mapping |  | | autism | - | - | - | - | 1 | - | 1 |
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 |
|---|---|---|---|---|
| Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
| 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.