Evidence Details for CHKB
Basic Information Top
Gene Symbol: | CHKB ( CHETK,CHKL,CK,CKB,CKEKB,EK,EKB ) |
---|---|
Gene Full Name: | choline kinase beta |
Band: | 22q13.33 |
Quick Links | Entrez ID:1120; OMIM: 612395; Uniprot ID:CHKB_HUMAN; ENSEMBL ID: ENSG00000100288; HGNC ID: 1938 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CHKB|1120|nucleotide
ATGGCGGCCGAGGCGACAGCTGTGGCCGGAAGCGGGGCTGTTGGCGGCTGCCTGGCCAAAGACGGCTTGCAGCAGTCTAAGTGCCCGGACACTACCCCAAAACGG
CGGCGCGCCTCGTCGCTGTCGCGTGACGCCGAGCGCCGAGCCTACCAATGGTGCCGGGAGTACTTGGGCGGGGCCTGGCGCCGAGTGCAGCCCGAGGAGCTGAGG
GTTTACCCCGTGAGCGGAGGCCTCAGCAACCTGCTCTTCCGCTGCTCGCTCCCGGACCACCTGCCCAGCGTTGGCGAGGAGCCCCGGGAGGTGCTTCTGCGGCTG
TACGGAGCCATCTTGCAGGGCGTGGACTCCCTGGTGCTAGAAAGCGTGATGTTCGCCATACTTGCGGAGCGGTCGCTGGGGCCCCAGCTGTACGGAGTCTTCCCA
GAGGGCCGGCTGGAACAGTACATCCCAAGTCGGCCATTGAAAACTCAAGAGCTTCGAGAGCCAGTGTTGTCAGCAGCCATTGCCACGAAGATGGCGCAATTTCAT
GGCATGGAGATGCCTTTCACCAAGGAGCCCCACTGGCTGTTTGGGACCATGGAGCGGTACCTAAAACAGATCCAGGACCTGCCCCCAACTGGCCTCCCTGAGATG
AACCTGCTGGAGATGTACAGCCTGAAGGATGAGATGGGCAACCTCAGGAAGTTACTAGAGTCTACCCCATCGCCAGTCGTCTTCTGCCACAATGACATCCAGGAA
GGGAACATCTTGCTGCTCTCAGAGCCAGAAAATGCTGACAGCCTCATGCTGGTGGACTTCGAGTACAGCAGTTATAACTATAGGGGCTTTGACATTGGGAACCAT
TTTTGTGAGTGGGTTTATGATTATACTCACGAGGAATGGCCTTTCTACAAAGCAAGGCCCACAGACTACCCCACTCAAGAACAGCAGTTGCATTTTATTCGTCAT
TACCTGGCAGAGGCAAAGAAAGGTGAGACCCTCTCCCAAGAGGAGCAGAGAAAACTGGAAGAAGATTTGCTGGTAGAAGTCAGTCGGTATGCTCTGGCATCCCAT
TTCTTCTGGGGTCTGTGGTCCATCCTCCAGGCATCCATGTCCACCATAGAATTTGGTTACTTGGACTATGCCCAGTCTCGGTTCCAGTTCTACTTCCAGCAGAAG
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ATGGCGGCCGAGGCGACAGCTGTGGCCGGAAGCGGGGCTGTTGGCGGCTGCCTGGCCAAAGACGGCTTGCAGCAGTCTAAGTGCCCGGACACTACCCCAAAACGG
CGGCGCGCCTCGTCGCTGTCGCGTGACGCCGAGCGCCGAGCCTACCAATGGTGCCGGGAGTACTTGGGCGGGGCCTGGCGCCGAGTGCAGCCCGAGGAGCTGAGG
GTTTACCCCGTGAGCGGAGGCCTCAGCAACCTGCTCTTCCGCTGCTCGCTCCCGGACCACCTGCCCAGCGTTGGCGAGGAGCCCCGGGAGGTGCTTCTGCGGCTG
TACGGAGCCATCTTGCAGGGCGTGGACTCCCTGGTGCTAGAAAGCGTGATGTTCGCCATACTTGCGGAGCGGTCGCTGGGGCCCCAGCTGTACGGAGTCTTCCCA
GAGGGCCGGCTGGAACAGTACATCCCAAGTCGGCCATTGAAAACTCAAGAGCTTCGAGAGCCAGTGTTGTCAGCAGCCATTGCCACGAAGATGGCGCAATTTCAT
GGCATGGAGATGCCTTTCACCAAGGAGCCCCACTGGCTGTTTGGGACCATGGAGCGGTACCTAAAACAGATCCAGGACCTGCCCCCAACTGGCCTCCCTGAGATG
AACCTGCTGGAGATGTACAGCCTGAAGGATGAGATGGGCAACCTCAGGAAGTTACTAGAGTCTACCCCATCGCCAGTCGTCTTCTGCCACAATGACATCCAGGAA
GGGAACATCTTGCTGCTCTCAGAGCCAGAAAATGCTGACAGCCTCATGCTGGTGGACTTCGAGTACAGCAGTTATAACTATAGGGGCTTTGACATTGGGAACCAT
TTTTGTGAGTGGGTTTATGATTATACTCACGAGGAATGGCCTTTCTACAAAGCAAGGCCCACAGACTACCCCACTCAAGAACAGCAGTTGCATTTTATTCGTCAT
TACCTGGCAGAGGCAAAGAAAGGTGAGACCCTCTCCCAAGAGGAGCAGAGAAAACTGGAAGAAGATTTGCTGGTAGAAGTCAGTCGGTATGCTCTGGCATCCCAT
TTCTTCTGGGGTCTGTGGTCCATCCTCCAGGCATCCATGTCCACCATAGAATTTGGTTACTTGGACTATGCCCAGTCTCGGTTCCAGTTCTACTTCCAGCAGAAG
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>CHKB|1120|protein
MAAEATAVAGSGAVGGCLAKDGLQQSKCPDTTPKRRRASSLSRDAERRAYQWCREYLGGAWRRVQPEELRVYPVSGGLSNLLFRCSLPDHLPSVGEEPREVLLRL
YGAILQGVDSLVLESVMFAILAERSLGPQLYGVFPEGRLEQYIPSRPLKTQELREPVLSAAIATKMAQFHGMEMPFTKEPHWLFGTMERYLKQIQDLPPTGLPEM
NLLEMYSLKDEMGNLRKLLESTPSPVVFCHNDIQEGNILLLSEPENADSLMLVDFEYSSYNYRGFDIGNHFCEWVYDYTHEEWPFYKARPTDYPTQEQQLHFIRH
YLAEAKKGETLSQEEQRKLEEDLLVEVSRYALASHFFWGLWSILQASMSTIEFGYLDYAQSRFQFYFQQKGQLTSVHSSS
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MAAEATAVAGSGAVGGCLAKDGLQQSKCPDTTPKRRRASSLSRDAERRAYQWCREYLGGAWRRVQPEELRVYPVSGGLSNLLFRCSLPDHLPSVGEEPREVLLRL
YGAILQGVDSLVLESVMFAILAERSLGPQLYGVFPEGRLEQYIPSRPLKTQELREPVLSAAIATKMAQFHGMEMPFTKEPHWLFGTMERYLKQIQDLPPTGLPEM
NLLEMYSLKDEMGNLRKLLESTPSPVVFCHNDIQEGNILLLSEPENADSLMLVDFEYSSYNYRGFDIGNHFCEWVYDYTHEEWPFYKARPTDYPTQEQQLHFIRH
YLAEAKKGETLSQEEQRKLEEDLLVEVSRYALASHFFWGLWSILQASMSTIEFGYLDYAQSRFQFYFQQKGQLTSVHSSS
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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) | 2 (8) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (9) |
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 | ||
Goizet, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
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 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.943833 | Down | 38.8588 | |||
|
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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