Evidence Details for BIK
Basic Information Top
| Gene Symbol: | BIK ( BIP1,BP4,NBK ) |
|---|---|
| Gene Full Name: | BCL2-interacting killer (apoptosis-inducing) |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:638; OMIM: 603392; Uniprot ID:BIK_HUMAN; ENSEMBL ID: ENSG00000100290; HGNC ID: 1051 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>BIK|638|nucleotide
ATGTCTGAAGTAAGACCCCTCTCCAGAGACATCTTGATGGAGACCCTCCTGTATGAGCAGCTCCTGGAACCCCCGACCATGGAGGTTCTTGGCATGACTGACTCT
GAAGAGGACCTGGACCCTATGGAGGACTTCGATTCTTTGGAATGCATGGAGGGCAGTGACGCATTGGCCCTGCGGCTGGCCTGCATCGGGGACGAGATGGACGTG
AGCCTCAGGGCCCCGCGCCTGGCCCAGCTCTCCGAGGTGGCCATGCACAGCCTGGGTCTGGCTTTCATCTACGACCAGACTGAGGACATCAGGGATGTTCTTAGA
AGTTTCATGGACGGTTTCACCACACTTAAGGAGAACATAATGAGGTTCTGGAGATCCCCGAACCCCGGGTCCTGGGTGTCCTGCGAACAGGTGCTGCTGGCGCTG
CTGCTGCTGCTGGCGCTGCTGCTGCCGCTGCTCAGCGGGGGCCTGCACCTGCTGCTCAAGTGA
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ATGTCTGAAGTAAGACCCCTCTCCAGAGACATCTTGATGGAGACCCTCCTGTATGAGCAGCTCCTGGAACCCCCGACCATGGAGGTTCTTGGCATGACTGACTCT
GAAGAGGACCTGGACCCTATGGAGGACTTCGATTCTTTGGAATGCATGGAGGGCAGTGACGCATTGGCCCTGCGGCTGGCCTGCATCGGGGACGAGATGGACGTG
AGCCTCAGGGCCCCGCGCCTGGCCCAGCTCTCCGAGGTGGCCATGCACAGCCTGGGTCTGGCTTTCATCTACGACCAGACTGAGGACATCAGGGATGTTCTTAGA
AGTTTCATGGACGGTTTCACCACACTTAAGGAGAACATAATGAGGTTCTGGAGATCCCCGAACCCCGGGTCCTGGGTGTCCTGCGAACAGGTGCTGCTGGCGCTG
CTGCTGCTGCTGGCGCTGCTGCTGCCGCTGCTCAGCGGGGGCCTGCACCTGCTGCTCAAGTGA
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>BIK|638|protein
MSEVRPLSRDILMETLLYEQLLEPPTMEVLGMTDSEEDLDPMEDFDSLECMEGSDALALRLACIGDEMDVSLRAPRLAQLSEVAMHSLGLAFIYDQTEDIRDVLR
SFMDGFTTLKENIMRFWRSPNPGSWVSCEQVLLALLLLLALLLPLLSGGLHLLLK
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MSEVRPLSRDILMETLLYEQLLEPPTMEVLGMTDSEEDLDPMEDFDSLECMEGSDALALRLACIGDEMDVSLRAPRLAQLSEVAMHSLGLAFIYDQTEDIRDVLR
SFMDGFTTLKENIMRFWRSPNPGSWVSCEQVLLALLLLLALLLPLLSGGLHLLLK
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Evidence summary Top
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 (4) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Prasad, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
| Zwaag, 2009 | - | SNP microarray | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large 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%) |
-1.31 | Down | 0.115 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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