Evidence Details for AAGAB


Gene Symbol: | AAGAB ( DKFZp667D2317,DKFZp686G08119,FLJ11506,p34 ) |
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Gene Full Name: | alpha- and gamma-adaptin binding protein |
Band: | 15q23 |
Quick Links | Entrez ID:79719; OMIM: NA; Uniprot ID:AAGAB_HUMAN; ENSEMBL ID: ENSG00000103591; HGNC ID: 25662 |
Relate to Another Database: | SFARIGene; denovo-db |


>AAGAB|79719|nucleotide
ATGGCTGCTGGCGTACCCTGTGCGTTAGTCACCAGCTGCTCCTCCGTCTTCTCAGGAGACCAGCTGGTCCAACATATCCTTGGAACAGAAGATCTTATTGTGGAA
GTGACTTCCAATGATGCTGTGAGATTTTATCCCTGGACCATTGATAATAAATACTATTCAGCAGACATCAATCTATGTGTGGTGCCAAACAAATTTCTTGTTACT
GCAGAGATTGCAGAATCTGTCCAAGCATTTGTGGTTTACTTTGACAGCACACAAAAATCGGGCCTTGATAGTGTCTCCTCATGGCTTCCACTGGCAAAAGCATGG
TTACCTGAGGTGATGATCTTGGTCTGCGATAGAGTGTCTGAAGATGGTATAAACCGACAAAAAGCTCAAGAATGGTGCATCAAACATGGCTTTGAATTGGTAGAA
CTTAGTCCAGAGGAGTTGCCTGAGGAGGATGATGACTTCCCAGAATCTACAGGAGTAAAGCGAATTGTCCAAGCCCTGAATGCCAATGTGTGGTCCAATGTAGTG
ATGAAGAATGATAGGAACCAAGGCTTTAGCCTTCTCAACTCATTGACTGGAACAAACCATAGCATTGGGTCAGCAGATCCCTGTCACCCAGAGCAACCCCATTTG
CCAGCAGCAGATAGTACTGAATCCCTCTCTGATCATCGGGGTGGTGCATCTAACACAACAGATGCCCAGGTTGATAGCATTGTGGATCCCATGTTAGATCTGGAT
ATTCAAGAATTAGCCAGTCTTACCACTGGAGGAGGAGATGTGGAGAATTTTGAAAGACTCTTTTCAAAGTTAAAGGAAATGAAAGACAAGGCTGCGACGCTTCCT
CATGAGCAAAGAAAAGTGCATGCAGAAAAGGTGGCCAAAGCATTCTGGATGGCAATCGGGGGAGACAGAGATGAAATTGAAGGCCTTTCATCTGATGAAGAGCAC
TGA
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ATGGCTGCTGGCGTACCCTGTGCGTTAGTCACCAGCTGCTCCTCCGTCTTCTCAGGAGACCAGCTGGTCCAACATATCCTTGGAACAGAAGATCTTATTGTGGAA
GTGACTTCCAATGATGCTGTGAGATTTTATCCCTGGACCATTGATAATAAATACTATTCAGCAGACATCAATCTATGTGTGGTGCCAAACAAATTTCTTGTTACT
GCAGAGATTGCAGAATCTGTCCAAGCATTTGTGGTTTACTTTGACAGCACACAAAAATCGGGCCTTGATAGTGTCTCCTCATGGCTTCCACTGGCAAAAGCATGG
TTACCTGAGGTGATGATCTTGGTCTGCGATAGAGTGTCTGAAGATGGTATAAACCGACAAAAAGCTCAAGAATGGTGCATCAAACATGGCTTTGAATTGGTAGAA
CTTAGTCCAGAGGAGTTGCCTGAGGAGGATGATGACTTCCCAGAATCTACAGGAGTAAAGCGAATTGTCCAAGCCCTGAATGCCAATGTGTGGTCCAATGTAGTG
ATGAAGAATGATAGGAACCAAGGCTTTAGCCTTCTCAACTCATTGACTGGAACAAACCATAGCATTGGGTCAGCAGATCCCTGTCACCCAGAGCAACCCCATTTG
CCAGCAGCAGATAGTACTGAATCCCTCTCTGATCATCGGGGTGGTGCATCTAACACAACAGATGCCCAGGTTGATAGCATTGTGGATCCCATGTTAGATCTGGAT
ATTCAAGAATTAGCCAGTCTTACCACTGGAGGAGGAGATGTGGAGAATTTTGAAAGACTCTTTTCAAAGTTAAAGGAAATGAAAGACAAGGCTGCGACGCTTCCT
CATGAGCAAAGAAAAGTGCATGCAGAAAAGGTGGCCAAAGCATTCTGGATGGCAATCGGGGGAGACAGAGATGAAATTGAAGGCCTTTCATCTGATGAAGAGCAC
TGA
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>AAGAB|79719|protein
MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINLCVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAW
LPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVELSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHL
PAADSTESLSDHRGGASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLPHEQRKVHAEKVAKAFWMAIGGDRDEIEGLSSDEEH
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MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINLCVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAW
LPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVELSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHL
PAADSTESLSDHRGGASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLPHEQRKVHAEKVAKAFWMAIGGDRDEIEGLSSDEEH
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Click 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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Smith, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |














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