Evidence Details for BANK1
Basic Information Top
| Gene Symbol: | BANK1 ( BANK,FLJ20706,FLJ34204 ) |
|---|---|
| Gene Full Name: | B-cell scaffold protein with ankyrin repeats 1 |
| Band: | 4q24 |
| Quick Links | Entrez ID:55024; OMIM: 610292; Uniprot ID:BANK1_HUMAN; ENSEMBL ID: ENSG00000153064; HGNC ID: 18233 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BANK1|55024|nucleotide
ATGATATATGAAGAAGATGCTGAGGAATGGGCTCTGTACTTGACAGAAGTATTTTTACATGTTGTGAAAAGGGAAGCCATCCTGTTATATCGCTTGGAGAATTTC
TCTTTTCGGCATTTGGAGTTGCTGAACTTAACGTCTTACAAATGTAAACTTTTGATATTATCAAATAGCCTGCTTAGAGACCTAACTCCAAAGAAATGTCAGTTT
CTGGAAAAGATACTTCATTCACCAAAAAGTGTAGTTACTTTGCTTTGTGGAGTGAAGAGTTCAGATCAGCTCTATGAATTACTAAATATCTCTCAAAGCAGATGG
GAGATCTCAACTGAACAGGAACCTGAAGACTACATCTCTGTAATCCAGAGTATCATATTCAAAGATTCTGAAGACTACTTTGAGGTCAACATTCCAACAGACCTA
CGAGCAAAACATTCTGGGGAAATAAGTGAGAGAAAGGAAATTGAAGAACTATCAGAAGCTTCAAGAAACACCATACCACTAGCAGTGGTGCTTCCCACTGAAATT
CCATGTGAGAATCCTGGTGAAATATTCATAATTTTGAGAGATGAAGTAATTGGTGATACTGTAGAGGTTGAATTTACATCAAGTAATAAGCGCATTAGAACACGG
CCAGCCCTTTGGAATAAGAAAGTCTGGTGCATGAAAGCTTTAGAGTTTCCTGCTGGTTCAGTCCATGTCAATGTCTACTGTGATGGAATCGTTAAAGCTACAACC
AAAATTAAGTACTACCCAACAGCAAAGGCAAAGGAATGCCTATTCAGAATGGCAGATTCAGGAGAGAGTTTGTGCCAGAATAGCATTGAAGAACTTGATGGTGTC
CTTACATCCATATTCAAACATGAGATACCATATTATGAGTTCCAGTCTCTTCAAACTGAAATTTGTTCTCAAAACAAATATACTCATTTCAAAGAACTTCCAACT
CTTCTCCACTGTGCAGCAAAATTTGGCTTAAAGAACCTGGCTATTCATTTGCTTCAATGTTCAGGAGCAACCTGGGCATCTAAGATGAAAAATATGGAGGGTTCA
GACCCCGCACATATTGCTGAAAGGCATGGTCACAAAGAACTCAAGAAAATCTTCGAAGACTTTTCAATCCAAGAAATTGACATAAATAATGAGCAAGAAAATGAT
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ATGATATATGAAGAAGATGCTGAGGAATGGGCTCTGTACTTGACAGAAGTATTTTTACATGTTGTGAAAAGGGAAGCCATCCTGTTATATCGCTTGGAGAATTTC
TCTTTTCGGCATTTGGAGTTGCTGAACTTAACGTCTTACAAATGTAAACTTTTGATATTATCAAATAGCCTGCTTAGAGACCTAACTCCAAAGAAATGTCAGTTT
CTGGAAAAGATACTTCATTCACCAAAAAGTGTAGTTACTTTGCTTTGTGGAGTGAAGAGTTCAGATCAGCTCTATGAATTACTAAATATCTCTCAAAGCAGATGG
GAGATCTCAACTGAACAGGAACCTGAAGACTACATCTCTGTAATCCAGAGTATCATATTCAAAGATTCTGAAGACTACTTTGAGGTCAACATTCCAACAGACCTA
CGAGCAAAACATTCTGGGGAAATAAGTGAGAGAAAGGAAATTGAAGAACTATCAGAAGCTTCAAGAAACACCATACCACTAGCAGTGGTGCTTCCCACTGAAATT
CCATGTGAGAATCCTGGTGAAATATTCATAATTTTGAGAGATGAAGTAATTGGTGATACTGTAGAGGTTGAATTTACATCAAGTAATAAGCGCATTAGAACACGG
CCAGCCCTTTGGAATAAGAAAGTCTGGTGCATGAAAGCTTTAGAGTTTCCTGCTGGTTCAGTCCATGTCAATGTCTACTGTGATGGAATCGTTAAAGCTACAACC
AAAATTAAGTACTACCCAACAGCAAAGGCAAAGGAATGCCTATTCAGAATGGCAGATTCAGGAGAGAGTTTGTGCCAGAATAGCATTGAAGAACTTGATGGTGTC
CTTACATCCATATTCAAACATGAGATACCATATTATGAGTTCCAGTCTCTTCAAACTGAAATTTGTTCTCAAAACAAATATACTCATTTCAAAGAACTTCCAACT
CTTCTCCACTGTGCAGCAAAATTTGGCTTAAAGAACCTGGCTATTCATTTGCTTCAATGTTCAGGAGCAACCTGGGCATCTAAGATGAAAAATATGGAGGGTTCA
GACCCCGCACATATTGCTGAAAGGCATGGTCACAAAGAACTCAAGAAAATCTTCGAAGACTTTTCAATCCAAGAAATTGACATAAATAATGAGCAAGAAAATGAT
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>BANK1|55024|protein
MIYEEDAEEWALYLTEVFLHVVKREAILLYRLENFSFRHLELLNLTSYKCKLLILSNSLLRDLTPKKCQFLEKILHSPKSVVTLLCGVKSSDQLYELLNISQSRW
EISTEQEPEDYISVIQSIIFKDSEDYFEVNIPTDLRAKHSGEISERKEIEELSEASRNTIPLAVVLPTEIPCENPGEIFIILRDEVIGDTVEVEFTSSNKRIRTR
PALWNKKVWCMKALEFPAGSVHVNVYCDGIVKATTKIKYYPTAKAKECLFRMADSGESLCQNSIEELDGVLTSIFKHEIPYYEFQSLQTEICSQNKYTHFKELPT
LLHCAAKFGLKNLAIHLLQCSGATWASKMKNMEGSDPAHIAERHGHKELKKIFEDFSIQEIDINNEQENDYEEDIASFSTYIPSTQNPAFHHESRKTYGQSADGA
EANEMEGEGKQNGSGMETKHSPLEVGSESSEDQYDDLYVFIPGADPENNSQEPLMSSRPPLPPPRPVANAFQLERPHFTLPGTMVEGQMERSQNWGHPGVRQETG
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MIYEEDAEEWALYLTEVFLHVVKREAILLYRLENFSFRHLELLNLTSYKCKLLILSNSLLRDLTPKKCQFLEKILHSPKSVVTLLCGVKSSDQLYELLNISQSRW
EISTEQEPEDYISVIQSIIFKDSEDYFEVNIPTDLRAKHSGEISERKEIEELSEASRNTIPLAVVLPTEIPCENPGEIFIILRDEVIGDTVEVEFTSSNKRIRTR
PALWNKKVWCMKALEFPAGSVHVNVYCDGIVKATTKIKYYPTAKAKECLFRMADSGESLCQNSIEELDGVLTSIFKHEIPYYEFQSLQTEICSQNKYTHFKELPT
LLHCAAKFGLKNLAIHLLQCSGATWASKMKNMEGSDPAHIAERHGHKELKKIFEDFSIQEIDINNEQENDYEEDIASFSTYIPSTQNPAFHHESRKTYGQSADGA
EANEMEGEGKQNGSGMETKHSPLEVGSESSEDQYDDLYVFIPGADPENNSQEPLMSSRPPLPPPRPVANAFQLERPHFTLPGTMVEGQMERSQNWGHPGVRQETG
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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 (2) | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (5) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen |  | | autism | 115 | - | 115 | - | - | - | - |
| Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | | | ASD | 314 | - | 314 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | | | - | AD | 22 (13.64%) |
1.27 | Up | 0.0272 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.