CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
Information
- Symbol
- CITED1
- Type
- protein-coding
- Description
- Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
- Entrez Gene ID
- 4435
- Genome
- hg19
- Position
- chrX:71,521,488-71,527,000
- Genome
- hg38
- Position
- chrX:72,301,638-72,307,150
- MIM
- 300149 OMIM
- HGNC
- HGNC:1986 HGNC
- Ensembl
- ENSG00000125931 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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26 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| 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 | : |
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| 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 | MSG1 |
| MIM | 300149 OMIM |
| HGNC | HGNC:1986 HGNC |
| Ensembl | ENSG00000125931 Ensembl |
| AllianceGenome | HGNC:1986 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000246139.9 | hg38 | chrX | 72,301,650 | 72,306,987 | 5,338 |
| ENST00000445983.5 | hg38 | chrX | 72,301,640 | 72,305,914 | 4,275 |
| ENST00000453707.6 | hg38 | chrX | 72,301,638 | 72,307,150 | 5,513 |
| ENST00000651998.1 | hg38 | chrX | 72,301,646 | 72,305,914 | 4,269 |
| ENST00000431381.5 | hg38 | chrX | 72,301,640 | 72,305,914 | 4,275 |
| ENST00000373619.7 | hg38 | chrX | 72,301,647 | 72,307,187 | 5,541 |
| ENST00000453707.6 | hg19 | chrX | 71,521,488 | 71,527,000 | 5,513 |
| ENST00000431381.5 | hg19 | chrX | 71,521,490 | 71,525,764 | 4,275 |
| ENST00000445983.5 | hg19 | chrX | 71,521,490 | 71,525,764 | 4,275 |
| ENST00000651998.1 | hg19 | chrX | 71,521,496 | 71,525,764 | 4,269 |
| ENST00000373619.7 | hg19 | chrX | 71,521,497 | 71,527,037 | 5,541 |
| ENST00000246139.9 | hg19 | chrX | 71,521,500 | 71,526,837 | 5,338 |
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