Evidence Details for BLK
Basic Information Top
| Gene Symbol: | BLK ( MGC10442,MODY11 ) |
|---|---|
| Gene Full Name: | B lymphoid tyrosine kinase |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:640; OMIM: 191305; Uniprot ID:BLK_HUMAN; ENSEMBL ID: ENSG00000136573; HGNC ID: 1057 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BLK|640|nucleotide
ATGGGGCTGGTAAGTAGCAAAAAGCCGGACAAGGAAAAGCCGATCAAAGAGAAGGACAAGGGCCAATGGAGCCCCCTGAAGGTCAGCGCCCAAGACAAGGACGCC
CCGCCACTGCCGCCCCTGGTTGTCTTCAACCACCTTACTCCTCCACCGCCCGATGAACACCTGGATGAAGACAAGCATTTCGTGGTGGCTCTGTATGACTACACC
GCTATGAATGATCGGGACCTGCAGATGCTGAAGGGGGAGAAGCTACAGGTCCTGAAGGGAACTGGAGACTGGTGGCTGGCCAGGTCACTCGTCACAGGAAGAGAA
GGCTATGTGCCCAGTAACTTTGTGGCCCGAGTGGAGAGCCTGGAAATGGAAAGGTGGTTCTTTAGATCACAGGGTCGGAAGGAGGCTGAGAGGCAGCTTCTTGCT
CCAATCAACAAGGCCGGCTCCTTTCTTATCAGAGAGAGTGAAACCAACAAAGGTGCCTTCTCCCTGTCTGTGAAGGATGTCACCACCCAGGGGGAGCTGATCAAG
CACTATAAGATCCGCTGCCTGGATGAAGGGGGCTACTACATCTCCCCCCGGATCACCTTCCCCTCGCTCCAGGCCCTGGTGCAGCACTATTCTAAGAAGGGGGAT
GGTCTATGCCAGAGGCTGACCCTGCCCTGTGTGCGCCCGGCCCCGCAGAATCCCTGGGCCCAGGATGAATGGGAGATCCCCCGGCAGTCTCTCAGGCTGGTCAGG
AAACTCGGGTCTGGACAATTCGGCGAAGTCTGGATGGGTTACTACAAAAACAACATGAAGGTGGCCATTAAGACGCTGAAGGAGGGAACCATGTCTCCAGAAGCC
TTTCTGGGTGAGGCCAACGTGATGAAGGCTCTGCAGCACGAGCGGCTGGTCCGACTCTACGCAGTGGTCACCAAGGAGCCCATCTACATTGTCACCGAGTACATG
GCCAGAGGATGCCTGCTGGATTTCCTGAAGACAGATGAAGGGAGCAGATTGTCACTCCCAAGGCTGATTGACATGTCGGCGCAGATTGCTGAAGGGATGGCATAC
ATTGAGCGCATGAATTCCATCCACCGCGACCTGCGGGCGGCCAACATCCTGGTGTCTGAGGCCTTGTGCTGCAAAATTGCTGATTTTGGCTTGGCTCGAATCATC
Show »
ATGGGGCTGGTAAGTAGCAAAAAGCCGGACAAGGAAAAGCCGATCAAAGAGAAGGACAAGGGCCAATGGAGCCCCCTGAAGGTCAGCGCCCAAGACAAGGACGCC
CCGCCACTGCCGCCCCTGGTTGTCTTCAACCACCTTACTCCTCCACCGCCCGATGAACACCTGGATGAAGACAAGCATTTCGTGGTGGCTCTGTATGACTACACC
GCTATGAATGATCGGGACCTGCAGATGCTGAAGGGGGAGAAGCTACAGGTCCTGAAGGGAACTGGAGACTGGTGGCTGGCCAGGTCACTCGTCACAGGAAGAGAA
GGCTATGTGCCCAGTAACTTTGTGGCCCGAGTGGAGAGCCTGGAAATGGAAAGGTGGTTCTTTAGATCACAGGGTCGGAAGGAGGCTGAGAGGCAGCTTCTTGCT
CCAATCAACAAGGCCGGCTCCTTTCTTATCAGAGAGAGTGAAACCAACAAAGGTGCCTTCTCCCTGTCTGTGAAGGATGTCACCACCCAGGGGGAGCTGATCAAG
CACTATAAGATCCGCTGCCTGGATGAAGGGGGCTACTACATCTCCCCCCGGATCACCTTCCCCTCGCTCCAGGCCCTGGTGCAGCACTATTCTAAGAAGGGGGAT
GGTCTATGCCAGAGGCTGACCCTGCCCTGTGTGCGCCCGGCCCCGCAGAATCCCTGGGCCCAGGATGAATGGGAGATCCCCCGGCAGTCTCTCAGGCTGGTCAGG
AAACTCGGGTCTGGACAATTCGGCGAAGTCTGGATGGGTTACTACAAAAACAACATGAAGGTGGCCATTAAGACGCTGAAGGAGGGAACCATGTCTCCAGAAGCC
TTTCTGGGTGAGGCCAACGTGATGAAGGCTCTGCAGCACGAGCGGCTGGTCCGACTCTACGCAGTGGTCACCAAGGAGCCCATCTACATTGTCACCGAGTACATG
GCCAGAGGATGCCTGCTGGATTTCCTGAAGACAGATGAAGGGAGCAGATTGTCACTCCCAAGGCTGATTGACATGTCGGCGCAGATTGCTGAAGGGATGGCATAC
ATTGAGCGCATGAATTCCATCCACCGCGACCTGCGGGCGGCCAACATCCTGGTGTCTGAGGCCTTGTGCTGCAAAATTGCTGATTTTGGCTTGGCTCGAATCATC
Show »
>BLK|640|protein
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQMLKGEKLQVLKGTGDWWLARSLVTGRE
GYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAFSLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGD
GLCQRLTLPCVRPAPQNPWAQDEWEIPRQSLRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYM
ARGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWS
FGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP
Show »
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQMLKGEKLQVLKGTGDWWLARSLVTGRE
GYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAFSLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGD
GLCQRLTLPCVRPAPQNPWAQDEWEIPRQSLRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYM
ARGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWS
FGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP
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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (4) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top