Evidence Details for ABHD14A
Basic Information Top
| Gene Symbol: | ABHD14A ( DKFZp564O243,DORZ1,FLJ60317,FLJ60467 ) |
|---|---|
| Gene Full Name: | abhydrolase domain containing 14A |
| Band: | 3p21.2 |
| Quick Links | Entrez ID:25864; OMIM: NA; Uniprot ID:ABHEA_HUMAN; ENSEMBL ID: ENSG00000114786; HGNC ID: 24538 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ABHD14A|25864|nucleotide
ATGGTCGGGGCGCTGTGCGGCTGCTGGTTCCGCCTGGGCGGGGCCCGCCCGCTCATCCCGTTGGGCCCGACTGTGGTACAGACCTCCATGAGCCGGTCCCAGGTA
GCCCTGCTGGGCCTGAGTCTGCTGCTCATGCTCCTACTGTATGTGGGGCTGCCAGGCCCCCCTGAGCAGACTTCCTGCCTCTGGGGAGACCCCAATGTCACAGTC
CTGGCTGGTCTCACCCCTGGCAACTCGCCCATCTTTTACCGCGAGGTGCTCCCACTCAACCAGGCACACAGGGTGGAGGTGGTGCTGCTTCATGGAAAGGCCTTT
AACTCTCACACGTGGGAGCAGCTGGGCACACTGCAGCTACTGTCACAGAGGGGCTACCGGGCCGTGGCCCTTGACCTTCCAGGTTTTGGGAACTCGGCACCTTCA
AAGGAGGCAAGCACAGAGGCAGGGCGGGCAGCGCTGCTGGAGCGGGCGCTGCGGGACCTGGAGGTACAGAATGCCGTGTTGGTGAGCCCCTCGCTGAGTGGCCAC
TATGCCCTGCCCTTCCTGATGCGAGGCCACCACCAGCTACATGGATTTGTGCCCATCGCACCCACCTCCACCCAGAACTACACCCAGGAGCAATTCTGGGCTGTG
AAGACTCCAACCCTTATCCTGTATGGAGAGCTGGACCACATCCTGGCTCGAGAGTCACTGCGGCAGCTCCGCCACCTGCCCAACCACTCTGTGGTGAAGCTACGC
AATGCAGGCCATGCCTGTTACCTCCACAAGCCGCAAGACTTCCACCTTGTCCTGCTTGCCTTCCTTGACCATCTACCTTGA
Show »
ATGGTCGGGGCGCTGTGCGGCTGCTGGTTCCGCCTGGGCGGGGCCCGCCCGCTCATCCCGTTGGGCCCGACTGTGGTACAGACCTCCATGAGCCGGTCCCAGGTA
GCCCTGCTGGGCCTGAGTCTGCTGCTCATGCTCCTACTGTATGTGGGGCTGCCAGGCCCCCCTGAGCAGACTTCCTGCCTCTGGGGAGACCCCAATGTCACAGTC
CTGGCTGGTCTCACCCCTGGCAACTCGCCCATCTTTTACCGCGAGGTGCTCCCACTCAACCAGGCACACAGGGTGGAGGTGGTGCTGCTTCATGGAAAGGCCTTT
AACTCTCACACGTGGGAGCAGCTGGGCACACTGCAGCTACTGTCACAGAGGGGCTACCGGGCCGTGGCCCTTGACCTTCCAGGTTTTGGGAACTCGGCACCTTCA
AAGGAGGCAAGCACAGAGGCAGGGCGGGCAGCGCTGCTGGAGCGGGCGCTGCGGGACCTGGAGGTACAGAATGCCGTGTTGGTGAGCCCCTCGCTGAGTGGCCAC
TATGCCCTGCCCTTCCTGATGCGAGGCCACCACCAGCTACATGGATTTGTGCCCATCGCACCCACCTCCACCCAGAACTACACCCAGGAGCAATTCTGGGCTGTG
AAGACTCCAACCCTTATCCTGTATGGAGAGCTGGACCACATCCTGGCTCGAGAGTCACTGCGGCAGCTCCGCCACCTGCCCAACCACTCTGTGGTGAAGCTACGC
AATGCAGGCCATGCCTGTTACCTCCACAAGCCGCAAGACTTCCACCTTGTCCTGCTTGCCTTCCTTGACCATCTACCTTGA
Show »
>ABHD14A|25864|protein
MVGALCGCWFRLGGARPLIPLGPTVVQTSMSRSQVALLGLSLLLMLLLYVGLPGPPEQTSCLWGDPNVTVLAGLTPGNSPIFYREVLPLNQAHRVEVVLLHGKAF
NSHTWEQLGTLQLLSQRGYRAVALDLPGFGNSAPSKEASTEAGRAALLERALRDLEVQNAVLVSPSLSGHYALPFLMRGHHQLHGFVPIAPTSTQNYTQEQFWAV
KTPTLILYGELDHILARESLRQLRHLPNHSVVKLRNAGHACYLHKPQDFHLVLLAFLDHLP
Show »
MVGALCGCWFRLGGARPLIPLGPTVVQTSMSRSQVALLGLSLLLMLLLYVGLPGPPEQTSCLWGDPNVTVLAGLTPGNSPIFYREVLPLNQAHRVEVVLLHGKAF
NSHTWEQLGTLQLLSQRGYRAVALDLPGFGNSAPSKEASTEAGRAALLERALRDLEVQNAVLVSPSLSGHYALPFLMRGHHQLHGFVPIAPTSTQNYTQEQFWAV
KTPTLILYGELDHILARESLRQLRHLPNHSVVKLRNAGHACYLHKPQDFHLVLLAFLDHLP
Show »
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 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top