CREB3L3 cAMP responsive element binding protein 3 like 3
Information
- Symbol
- CREB3L3
- Type
- protein-coding
- Description
- cAMP responsive element binding protein 3 like 3
- Entrez Gene ID
- 84699
- Genome
- hg19
- Position
- chr19:4,153,628-4,173,051
- Genome
- hg38
- Position
- chr19:4,153,631-4,173,054
- MIM
- 611998 OMIM
- HGNC
- HGNC:18855 HGNC
- Ensembl
- ENSG00000060566 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 12 |
| Benign | 0 | 82 |
| Likely benign | 0 | 118 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| Uncertain significance | 0 | 176 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
40 |
 |
348 |
 |
2 |
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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| 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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| 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
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| 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 | CREB-H |
| SYNONYM | CREBH |
| SYNONYM | HYST1481 |
| SYNONYM | HYTG2 |
| MIM | 611998 OMIM |
| HGNC | HGNC:18855 HGNC |
| Ensembl | ENSG00000060566 Ensembl |
| AllianceGenome | HGNC:18855 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000078445.7 | hg38 | chr19 | 4,153,631 | 4,173,054 | 19,424 |
| ENST00000602147.1 | hg38 | chr19 | 4,153,668 | 4,171,992 | 18,325 |
| ENST00000595923.5 | hg38 | chr19 | 4,153,640 | 4,171,969 | 18,330 |
| ENST00000602257.5 | hg38 | chr19 | 4,153,668 | 4,171,984 | 18,317 |
| ENST00000078445.7 | hg19 | chr19 | 4,153,628 | 4,173,051 | 19,424 |
| ENST00000595923.5 | hg19 | chr19 | 4,153,637 | 4,171,966 | 18,330 |
| ENST00000602257.5 | hg19 | chr19 | 4,153,665 | 4,171,981 | 18,317 |
| ENST00000602147.1 | hg19 | chr19 | 4,153,665 | 4,171,989 | 18,325 |
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