Evidence Details for TXK
Basic Information Top
Gene Symbol: | TXK ( BTKL,MGC22473,PSCTK5,PTK4,RLK,TKL ) |
---|---|
Gene Full Name: | TXK tyrosine kinase |
Band: | 4p12 |
Quick Links | Entrez ID:7294; OMIM: 600058; Uniprot ID:TXK_HUMAN; ENSEMBL ID: ENSG00000074966; HGNC ID: 12434 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TXK|7294|nucleotide
ATGATCCTTTCCTCCTATAACACCATCCAGTCGGTTTTCTGTTGCTGCTGTTGCTGTTCAGTGCAGAAGCGACAAATGAGAACACAGATAAGCCTGAGCACAGAT
GAAGAGCTTCCAGAAAAATACACCCAGCGTCGCAGGCCGTGGCTCAGCCAATTGTCAAATAAGAAGCAATCCAACACGGGCCGTGTGCAGCCGTCAAAACGAAAG
CCACTGCCTCCCCTCCCACCCTCTGAGGTTGCTGAAGAGAAGATCCAAGTCAAGGCACTTTATGATTTTCTGCCCAGAGAACCCTGTAATTTAGCCTTAAGGAGA
GCAGAAGAATACCTGATACTGGAGAAATACAATCCTCACTGGTGGAAGGCAAGAGACCGTTTGGGGAATGAAGGCTTAATCCCAAGCAACTATGTGACTGAAAAC
AAAATAACTAATTTAGAAATATATGAGTGGTACCATAGAAACATTACCAGAAATCAGGCAGAACATCTATTGAGACAAGAGTCTAAAGAAGGTGCATTTATTGTC
AGAGATTCAAGACATTTAGGATCCTACACAATTTCCGTATTTATGGGAGCTAGAAGAAGTACGGAGGCTGCCATAAAACATTATCAGATAAAAAAGAATGACTCA
GGACAGTGGTATGTGGCTGAAAGACACGCCTTTCAATCAATCCCTGAGTTAATCTGGTATCACCAGCACAATGCAGCCGGTCTCATGACTCGTCTCCGATATCCA
GTTGGGCTGATGGGCAGTTGTTTACCAGCCACAGCTGGGTTTAGCTACGAAAAGTGGGAGATAGATCCATCTGAGTTGGCTTTTATAAAGGAGATTGGAAGCGGT
CAGTTTGGAGTGGTCCATTTAGGTGAATGGCGGTCACATATCCAGGTAGCTATCAAGGCCATCAATGAAGGCTCCATGTCTGAAGAGGATTTCATTGAAGAGGCC
AAAGTGATGATGAAATTATCTCATTCAAAGCTAGTGCAACTTTATGGAGTCTGTATACAGCGGAAGCCCCTTTACATTGTGACAGAGTTCATGGAAAATGGCTGC
CTGCTTAACTATCTCAGGGAGAATAAAGGAAAGCTTAGGAAGGAAATGCTACTGAGTGTATGCCAGGATATATGTGAAGGAATGGAATATCTGGAGAGGAATGGC
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ATGATCCTTTCCTCCTATAACACCATCCAGTCGGTTTTCTGTTGCTGCTGTTGCTGTTCAGTGCAGAAGCGACAAATGAGAACACAGATAAGCCTGAGCACAGAT
GAAGAGCTTCCAGAAAAATACACCCAGCGTCGCAGGCCGTGGCTCAGCCAATTGTCAAATAAGAAGCAATCCAACACGGGCCGTGTGCAGCCGTCAAAACGAAAG
CCACTGCCTCCCCTCCCACCCTCTGAGGTTGCTGAAGAGAAGATCCAAGTCAAGGCACTTTATGATTTTCTGCCCAGAGAACCCTGTAATTTAGCCTTAAGGAGA
GCAGAAGAATACCTGATACTGGAGAAATACAATCCTCACTGGTGGAAGGCAAGAGACCGTTTGGGGAATGAAGGCTTAATCCCAAGCAACTATGTGACTGAAAAC
AAAATAACTAATTTAGAAATATATGAGTGGTACCATAGAAACATTACCAGAAATCAGGCAGAACATCTATTGAGACAAGAGTCTAAAGAAGGTGCATTTATTGTC
AGAGATTCAAGACATTTAGGATCCTACACAATTTCCGTATTTATGGGAGCTAGAAGAAGTACGGAGGCTGCCATAAAACATTATCAGATAAAAAAGAATGACTCA
GGACAGTGGTATGTGGCTGAAAGACACGCCTTTCAATCAATCCCTGAGTTAATCTGGTATCACCAGCACAATGCAGCCGGTCTCATGACTCGTCTCCGATATCCA
GTTGGGCTGATGGGCAGTTGTTTACCAGCCACAGCTGGGTTTAGCTACGAAAAGTGGGAGATAGATCCATCTGAGTTGGCTTTTATAAAGGAGATTGGAAGCGGT
CAGTTTGGAGTGGTCCATTTAGGTGAATGGCGGTCACATATCCAGGTAGCTATCAAGGCCATCAATGAAGGCTCCATGTCTGAAGAGGATTTCATTGAAGAGGCC
AAAGTGATGATGAAATTATCTCATTCAAAGCTAGTGCAACTTTATGGAGTCTGTATACAGCGGAAGCCCCTTTACATTGTGACAGAGTTCATGGAAAATGGCTGC
CTGCTTAACTATCTCAGGGAGAATAAAGGAAAGCTTAGGAAGGAAATGCTACTGAGTGTATGCCAGGATATATGTGAAGGAATGGAATATCTGGAGAGGAATGGC
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>TXK|7294|protein
MILSSYNTIQSVFCCCCCCSVQKRQMRTQISLSTDEELPEKYTQRRRPWLSQLSNKKQSNTGRVQPSKRKPLPPLPPSEVAEEKIQVKALYDFLPREPCNLALRR
AEEYLILEKYNPHWWKARDRLGNEGLIPSNYVTENKITNLEIYEWYHRNITRNQAEHLLRQESKEGAFIVRDSRHLGSYTISVFMGARRSTEAAIKHYQIKKNDS
GQWYVAERHAFQSIPELIWYHQHNAAGLMTRLRYPVGLMGSCLPATAGFSYEKWEIDPSELAFIKEIGSGQFGVVHLGEWRSHIQVAIKAINEGSMSEEDFIEEA
KVMMKLSHSKLVQLYGVCIQRKPLYIVTEFMENGCLLNYLRENKGKLRKEMLLSVCQDICEGMEYLERNGYIHRDLAARNCLVSSTCIVKISDFGMTRYVLDDEY
VSSFGAKFPIKWSPPEVFLFNKYSSKSDVWSFGVLMWEVFTEGKMPFENKSNLQVVEAISEGFRLYRPHLAPMSIYEVMYSCWHEKPEGRPTFAELLRAVTEIAE
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MILSSYNTIQSVFCCCCCCSVQKRQMRTQISLSTDEELPEKYTQRRRPWLSQLSNKKQSNTGRVQPSKRKPLPPLPPSEVAEEKIQVKALYDFLPREPCNLALRR
AEEYLILEKYNPHWWKARDRLGNEGLIPSNYVTENKITNLEIYEWYHRNITRNQAEHLLRQESKEGAFIVRDSRHLGSYTISVFMGARRSTEAAIKHYQIKKNDS
GQWYVAERHAFQSIPELIWYHQHNAAGLMTRLRYPVGLMGSCLPATAGFSYEKWEIDPSELAFIKEIGSGQFGVVHLGEWRSHIQVAIKAINEGSMSEEDFIEEA
KVMMKLSHSKLVQLYGVCIQRKPLYIVTEFMENGCLLNYLRENKGKLRKEMLLSVCQDICEGMEYLERNGYIHRDLAARNCLVSSTCIVKISDFGMTRYVLDDEY
VSSFGAKFPIKWSPPEVFLFNKYSSKSDVWSFGVLMWEVFTEGKMPFENKSNLQVVEAISEGFRLYRPHLAPMSIYEVMYSCWHEKPEGRPTFAELLRAVTEIAE
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (2) |
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 | ||||||
Sabaratnam, 2000 | - | FISH | 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 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | autism with early onset | autism | 12 (25.00%) |
1.765 | Up | 0.0375 | |||
|
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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