Evidence Details for ABCA7
Basic Information Top
| Gene Symbol: | ABCA7 ( ABCA-SSN,ABCX,FLJ40025 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family A (ABC1), member 7 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:10347; OMIM: 605414; Uniprot ID:ABCA7_HUMAN; ENSEMBL ID: ENSG00000064687; HGNC ID: 37 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ABCA7|10347|nucleotide
ATGGCCTTCTGGACACAGCTGATGCTGCTGCTCTGGAAGAATTTCATGTATCGCCGGAGACAGCCGGTCCAGCTCCTGGTCGAATTGCTGTGGCCTCTCTTCCTC
TTCTTCATCCTGGTGGCTGTTCGCCACTCCCACCCGCCCCTGGAGCACCATGAATGCCACTTCCCAAACAAGCCACTGCCATCGGCGGGCACCGTGCCCTGGCTC
CAGGGTCTCATCTGTAATGTGAACAACACCTGCTTTCCGCAGCTGACACCGGGCGAGGAGCCCGGGCGCCTGAGCAACTTCAACGACTCCCTGGTCTCCCGGCTG
CTAGCCGATGCCCGCACTGTGCTGGGAGGGGCCAGTGCCCACAGGACGCTGGCTGGCCTAGGGAAGCTGATCGCCACGCTGAGGGCTGCACGCAGCACGGCCCAG
CCTCAACCAACCAAGCAGTCTCCACTGGAACCACCCATGCTGGATGTCGCGGAGCTGCTGACGTCACTGCTGCGCACGGAATCCCTGGGGTTGGCACTGGGCCAA
GCCCAGGAGCCCTTGCACAGCTTGTTGGAGGCCGCTGAGGACCTGGCCCAGGAGCTCCTGGCGCTGCGCAGCCTGGTGGAGCTTCGGGCACTGCTGCAGAGACCC
CGAGGGACCAGCGGCCCCCTGGAGTTGCTGTCAGAGGCCCTCTGCAGTGTCAGGGGACCTAGCAGCACAGTGGGCCCCTCCCTCAACTGGTACGAGGCTAGTGAC
CTGATGGAGCTGGTGGGGCAGGAGCCAGAATCCGCCCTGCCAGACAGCAGCCTGAGCCCCGCCTGCTCGGAGCTGATTGGAGCCCTGGACAGCCACCCGCTGTCC
CGCCTGCTCTGGAGACGCCTGAAGCCTCTGATCCTCGGGAAGCTACTCTTTGCACCAGATACACCTTTTACCCGGAAGCTCATGGCCCAGGTGAACCGGACCTTC
GAGGAGCTCACCCTGCTGAGGGATGTCCGGGAGGTGTGGGAGATGCTGGGACCCCGGATCTTCACCTTCATGAACGACAGTTCCAATGTGGCCATGCTGCAGCGG
CTCCTGCAGATGCAGGATGAAGGAAGAAGGCAGCCCAGACCTGGAGGCCGGGACCACATGGAGGCCCTGCGATCCTTTCTGGACCCTGGGAGCGGTGGCTACAGC
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ATGGCCTTCTGGACACAGCTGATGCTGCTGCTCTGGAAGAATTTCATGTATCGCCGGAGACAGCCGGTCCAGCTCCTGGTCGAATTGCTGTGGCCTCTCTTCCTC
TTCTTCATCCTGGTGGCTGTTCGCCACTCCCACCCGCCCCTGGAGCACCATGAATGCCACTTCCCAAACAAGCCACTGCCATCGGCGGGCACCGTGCCCTGGCTC
CAGGGTCTCATCTGTAATGTGAACAACACCTGCTTTCCGCAGCTGACACCGGGCGAGGAGCCCGGGCGCCTGAGCAACTTCAACGACTCCCTGGTCTCCCGGCTG
CTAGCCGATGCCCGCACTGTGCTGGGAGGGGCCAGTGCCCACAGGACGCTGGCTGGCCTAGGGAAGCTGATCGCCACGCTGAGGGCTGCACGCAGCACGGCCCAG
CCTCAACCAACCAAGCAGTCTCCACTGGAACCACCCATGCTGGATGTCGCGGAGCTGCTGACGTCACTGCTGCGCACGGAATCCCTGGGGTTGGCACTGGGCCAA
GCCCAGGAGCCCTTGCACAGCTTGTTGGAGGCCGCTGAGGACCTGGCCCAGGAGCTCCTGGCGCTGCGCAGCCTGGTGGAGCTTCGGGCACTGCTGCAGAGACCC
CGAGGGACCAGCGGCCCCCTGGAGTTGCTGTCAGAGGCCCTCTGCAGTGTCAGGGGACCTAGCAGCACAGTGGGCCCCTCCCTCAACTGGTACGAGGCTAGTGAC
CTGATGGAGCTGGTGGGGCAGGAGCCAGAATCCGCCCTGCCAGACAGCAGCCTGAGCCCCGCCTGCTCGGAGCTGATTGGAGCCCTGGACAGCCACCCGCTGTCC
CGCCTGCTCTGGAGACGCCTGAAGCCTCTGATCCTCGGGAAGCTACTCTTTGCACCAGATACACCTTTTACCCGGAAGCTCATGGCCCAGGTGAACCGGACCTTC
GAGGAGCTCACCCTGCTGAGGGATGTCCGGGAGGTGTGGGAGATGCTGGGACCCCGGATCTTCACCTTCATGAACGACAGTTCCAATGTGGCCATGCTGCAGCGG
CTCCTGCAGATGCAGGATGAAGGAAGAAGGCAGCCCAGACCTGGAGGCCGGGACCACATGGAGGCCCTGCGATCCTTTCTGGACCCTGGGAGCGGTGGCTACAGC
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>ABCA7|10347|protein
MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKPLPSAGTVPWLQGLICNVNNTCFPQLTPGEEPGRLSNFNDSLVSRL
LADARTVLGGASAHRTLAGLGKLIATLRAARSTAQPQPTKQSPLEPPMLDVAELLTSLLRTESLGLALGQAQEPLHSLLEAAEDLAQELLALRSLVELRALLQRP
RGTSGPLELLSEALCSVRGPSSTVGPSLNWYEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLSRLLWRRLKPLILGKLLFAPDTPFTRKLMAQVNRTF
EELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQRLLQMQDEGRRQPRPGGRDHMEALRSFLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAA
LVSRALQLLAEHRFWAGVVFLGPEDSSDPTEHPTPDLGPGHVRIKIRMDIDVVTRTNKIRDRFWDPGPAADPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRA
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MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKPLPSAGTVPWLQGLICNVNNTCFPQLTPGEEPGRLSNFNDSLVSRL
LADARTVLGGASAHRTLAGLGKLIATLRAARSTAQPQPTKQSPLEPPMLDVAELLTSLLRTESLGLALGQAQEPLHSLLEAAEDLAQELLALRSLVELRALLQRP
RGTSGPLELLSEALCSVRGPSSTVGPSLNWYEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLSRLLWRRLKPLILGKLLFAPDTPFTRKLMAQVNRTF
EELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQRLLQMQDEGRRQPRPGGRDHMEALRSFLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAA
LVSRALQLLAEHRFWAGVVFLGPEDSSDPTEHPTPDLGPGHVRIKIRMDIDVVTRTNKIRDRFWDPGPAADPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRA
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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) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 22 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen |  | | autism | 222 | - | 222 | - | - | - | - |
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.