CIT citron rho-interacting serine/threonine kinase
Information
- Symbol
- CIT
- Type
- protein-coding
- Description
- citron rho-interacting serine/threonine kinase
- Entrez Gene ID
- 11113
- Genome
- hg19
- Position
- chr12:120,123,596-120,315,124
- Genome
- hg38
- Position
- chr12:119,685,791-119,877,320
- MIM
- 605629 OMIM
- HGNC
- HGNC:1985 HGNC
- Ensembl
- ENSG00000122966 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 30 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 270 |
| Likely benign | 0 | 442 |
| Conflicting classifications of pathogenicity | 0 | 30 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 392 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
208 |
 |
872 |
 |
24 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CITK |
| SYNONYM | CRIK |
| SYNONYM | MCPH17 |
| SYNONYM | STK21 |
| MIM | 605629 OMIM |
| HGNC | HGNC:1985 HGNC |
| Ensembl | ENSG00000122966 Ensembl |
| AllianceGenome | HGNC:1985 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392521.7 | hg38 | chr12 | 119,685,791 | 119,877,320 | 191,530 |
| ENST00000678652.1 | hg38 | chr12 | 119,685,803 | 119,804,298 | 118,496 |
| ENST00000679249.1 | hg38 | chr12 | 119,685,803 | 119,803,490 | 117,688 |
| ENST00000678677.1 | hg38 | chr12 | 119,685,803 | 119,803,490 | 117,688 |
| ENST00000678087.1 | hg38 | chr12 | 119,685,803 | 119,804,489 | 118,687 |
| ENST00000676849.1 | hg38 | chr12 | 119,685,803 | 119,803,498 | 117,696 |
| ENST00000678494.1 | hg38 | chr12 | 119,685,814 | 119,804,298 | 118,485 |
| ENST00000677993.1 | hg38 | chr12 | 119,685,803 | 119,804,522 | 118,720 |
| ENST00000261833.11 | hg38 | chr12 | 119,685,791 | 119,877,288 | 191,498 |
| ENST00000261833.11 | hg19 | chr12 | 120,123,596 | 120,315,092 | 191,497 |
| ENST00000392521.7 | hg19 | chr12 | 120,123,596 | 120,315,124 | 191,529 |
| ENST00000678494.1 | hg19 | chr12 | 120,123,619 | 120,242,102 | 118,484 |
| ENST00000678677.1 | hg19 | chr12 | 120,123,608 | 120,241,294 | 117,687 |
| ENST00000679249.1 | hg19 | chr12 | 120,123,608 | 120,241,294 | 117,687 |
| ENST00000676849.1 | hg19 | chr12 | 120,123,608 | 120,241,302 | 117,695 |
| ENST00000678652.1 | hg19 | chr12 | 120,123,608 | 120,242,102 | 118,495 |
| ENST00000678087.1 | hg19 | chr12 | 120,123,608 | 120,242,293 | 118,686 |
| ENST00000677993.1 | hg19 | chr12 | 120,123,608 | 120,242,326 | 118,719 |
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