Evidence Details for CLNK
Basic Information Top
Gene Symbol: | CLNK ( MGC35197,MIST ) |
---|---|
Gene Full Name: | cytokine-dependent hematopoietic cell linker |
Band: | 4p16.1 |
Quick Links | Entrez ID:116449; OMIM: 611434; Uniprot ID:CLNK_HUMAN; ENSEMBL ID: ENSG00000109684; HGNC ID: 17438 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CLNK|116449|nucleotide
ATGAACAGGCAGGGCAATAGAAAGACAACTAAAGAAGGATCCAACGATTTGAAATTCCAGAACTTCAGTCTGCCAAAAAACAGGTCATGGCCTCGCATCAATAGT
GCCACAGGCCAGTACCAGAGGATGAACAAGCCTCTTCTAGACTGGGAAAGAAACTTTGCTGCAGTCCTGGATGGAGCAAAAGGCCACAGTGATGATGACTATGAT
GACCCTGAGCTTCGGATGGAAGAGACATGGCAGTCGATTAAAATTTTACCAGCCCGGCCTATAAAGGAATCTGAATATGCAGATACACACTATTTCAAGGTTGCA
ATGGACACTCCCCTTCCGTTAGACACCAGGACCTCTATCTCCATTGGACAGCCGACCTGGAACACACAGACGAGGTTGGAAAGAGTGGACAAACCCATTTCCAAG
GACGTCAGAAGCCAAAACATTAAAGGAGATGCATCCGTAAGAAAGAACAAGATTCCTTTACCACCTCCTCGGCCTCTCATAACACTTCCGAAGAAGTACCAACCC
TTGCCCCCTGAGCCGGAGAGCAGCAGGCCACCTTTATCTCAGAGACACACCTTTCCAGAAGTCCAGAGAATGCCCAGTCAGATAAGCTTAAGGGACTTAAGTGAG
GTCCTTGAAGCAGAAAAAGTTCCTCATAACCAGAGGAAGCCTGAATCAACTCATCTGTTAGAAAACCAAAATACTCAAGAGATTCCACTTGCCATTAGCAGTTCT
TCATTCACGACAAGCAACCACAGTGTGCAAAACAGAGATCATAGAGGAGGCATGCAGCCCTGTTCTCCTCAGAGATGCCAGCCTCCAGCCAGCTGCAGCCCTCAC
GAAAATATACTGCCCTATAAATACACAAGCTGGAGACCACCTTTCCCCAAAAGGTCTGATAGAAAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGC
CGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGATGGTAGTTTCTTGGTCCGAGATTGTTCCACAAAATCCAAGGAAGAGCCCTATGTTTTGGCTGTG
TTTTATGAGAACAAAGTCTACAATGTAAAAATCCGCTTCCTGGAGAGGAATCAGCAGTTTGCCCTGGGGACAGGACTCAGAGGAGATGAGAAGTTTGATTCAGTA
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ATGAACAGGCAGGGCAATAGAAAGACAACTAAAGAAGGATCCAACGATTTGAAATTCCAGAACTTCAGTCTGCCAAAAAACAGGTCATGGCCTCGCATCAATAGT
GCCACAGGCCAGTACCAGAGGATGAACAAGCCTCTTCTAGACTGGGAAAGAAACTTTGCTGCAGTCCTGGATGGAGCAAAAGGCCACAGTGATGATGACTATGAT
GACCCTGAGCTTCGGATGGAAGAGACATGGCAGTCGATTAAAATTTTACCAGCCCGGCCTATAAAGGAATCTGAATATGCAGATACACACTATTTCAAGGTTGCA
ATGGACACTCCCCTTCCGTTAGACACCAGGACCTCTATCTCCATTGGACAGCCGACCTGGAACACACAGACGAGGTTGGAAAGAGTGGACAAACCCATTTCCAAG
GACGTCAGAAGCCAAAACATTAAAGGAGATGCATCCGTAAGAAAGAACAAGATTCCTTTACCACCTCCTCGGCCTCTCATAACACTTCCGAAGAAGTACCAACCC
TTGCCCCCTGAGCCGGAGAGCAGCAGGCCACCTTTATCTCAGAGACACACCTTTCCAGAAGTCCAGAGAATGCCCAGTCAGATAAGCTTAAGGGACTTAAGTGAG
GTCCTTGAAGCAGAAAAAGTTCCTCATAACCAGAGGAAGCCTGAATCAACTCATCTGTTAGAAAACCAAAATACTCAAGAGATTCCACTTGCCATTAGCAGTTCT
TCATTCACGACAAGCAACCACAGTGTGCAAAACAGAGATCATAGAGGAGGCATGCAGCCCTGTTCTCCTCAGAGATGCCAGCCTCCAGCCAGCTGCAGCCCTCAC
GAAAATATACTGCCCTATAAATACACAAGCTGGAGACCACCTTTCCCCAAAAGGTCTGATAGAAAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGC
CGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGATGGTAGTTTCTTGGTCCGAGATTGTTCCACAAAATCCAAGGAAGAGCCCTATGTTTTGGCTGTG
TTTTATGAGAACAAAGTCTACAATGTAAAAATCCGCTTCCTGGAGAGGAATCAGCAGTTTGCCCTGGGGACAGGACTCAGAGGAGATGAGAAGTTTGATTCAGTA
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>CLNK|116449|protein
MNRQGNRKTTKEGSNDLKFQNFSLPKNRSWPRINSATGQYQRMNKPLLDWERNFAAVLDGAKGHSDDDYDDPELRMEETWQSIKILPARPIKESEYADTHYFKVA
MDTPLPLDTRTSISIGQPTWNTQTRLERVDKPISKDVRSQNIKGDASVRKNKIPLPPPRPLITLPKKYQPLPPEPESSRPPLSQRHTFPEVQRMPSQISLRDLSE
VLEAEKVPHNQRKPESTHLLENQNTQEIPLAISSSSFTTSNHSVQNRDHRGGMQPCSPQRCQPPASCSPHENILPYKYTSWRPPFPKRSDRKDVQHNEWYIGEYS
RQAVEEAFMKENKDGSFLVRDCSTKSKEEPYVLAVFYENKVYNVKIRFLERNQQFALGTGLRGDEKFDSVEDIIEHYKNFPIILIDGKDKTGVHRKQCHLTQPLP
LTRHLLPL
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MNRQGNRKTTKEGSNDLKFQNFSLPKNRSWPRINSATGQYQRMNKPLLDWERNFAAVLDGAKGHSDDDYDDPELRMEETWQSIKILPARPIKESEYADTHYFKVA
MDTPLPLDTRTSISIGQPTWNTQTRLERVDKPISKDVRSQNIKGDASVRKNKIPLPPPRPLITLPKKYQPLPPEPESSRPPLSQRHTFPEVQRMPSQISLRDLSE
VLEAEKVPHNQRKPESTHLLENQNTQEIPLAISSSSFTTSNHSVQNRDHRGGMQPCSPQRCQPPASCSPHENILPYKYTSWRPPFPKRSDRKDVQHNEWYIGEYS
RQAVEEAFMKENKDGSFLVRDCSTKSKEEPYVLAVFYENKVYNVKIRFLERNQQFALGTGLRGDEKFDSVEDIIEHYKNFPIILIDGKDKTGVHRKQCHLTQPLP
LTRHLLPL
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Evidence summary Top
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
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 | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
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%) |
1.37 | Up | 0.105 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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