HIF3A hypoxia inducible factor 3 subunit alpha
Information
- Symbol
- HIF3A
- Type
- protein-coding
- Description
- hypoxia inducible factor 3 subunit alpha
- Entrez Gene ID
- 64344
- Genome
- hg19
- Position
- chr19:46,800,299-46,846,690
- Genome
- hg38
- Position
- chr19:46,297,042-46,343,433
- MIM
- 609976 OMIM
- HGNC
- HGNC:15825 HGNC
- Ensembl
- ENSG00000124440 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 16 |
| Uncertain significance | 0 | 96 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
118 |
 |
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
[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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| 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 | HIF-3A |
| SYNONYM | HIF3-alpha-1 |
| SYNONYM | IPAS |
| SYNONYM | MOP7 |
| SYNONYM | PASD7 |
| SYNONYM | bHLHe17 |
| MIM | 609976 OMIM |
| HGNC | HGNC:15825 HGNC |
| Ensembl | ENSG00000124440 Ensembl |
| AllianceGenome | HGNC:15825 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000244303.10 | hg38 | chr19 | 46,298,390 | 46,339,909 | 41,520 |
| ENST00000600383.1 | hg38 | chr19 | 46,303,849 | 46,338,538 | 34,690 |
| ENST00000377670.9 | hg38 | chr19 | 46,297,042 | 46,343,433 | 46,392 |
| ENST00000300862.7 | hg38 | chr19 | 46,303,599 | 46,340,100 | 36,502 |
| ENST00000472815.5 | hg38 | chr19 | 46,298,426 | 46,338,538 | 40,113 |
| ENST00000377670.9 | hg19 | chr19 | 46,800,299 | 46,846,690 | 46,392 |
| ENST00000244303.10 | hg19 | chr19 | 46,801,647 | 46,843,166 | 41,520 |
| ENST00000472815.5 | hg19 | chr19 | 46,801,683 | 46,841,795 | 40,113 |
| ENST00000300862.7 | hg19 | chr19 | 46,806,856 | 46,843,357 | 36,502 |
| ENST00000600383.1 | hg19 | chr19 | 46,807,106 | 46,841,795 | 34,690 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 46,800,302 |
| Gene Symbol | HIF3A |
| Entrez GeneId | 64,344 |
| Chr Band | 19q13.32 |
| end | 46,846,689 |
| chr | chr19 |
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