ENST00000248089.8 HCFC1R1
Information
- Transcript ID
- ENST00000248089.8
- Genome
- hg38
- Position
- chr16:3,022,625-3,023,942
- Strand
- -
- CDS length
- 417
- Amino acid length
- 139
- Gene symbol
- HCFC1R1
- Gene type
- protein-coding
- Gene description
- host cell factor C1 regulator 1
- Gene Entrez Gene ID
- 54985
Variants
Display target variant
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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 4 | 3,022,625 | 3,022,998 |
| 3 | 3,023,233 | 3,023,361 |
| 2 | 3,023,474 | 3,023,530 |
| 1 | 3,023,847 | 3,023,942 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 4 | CDS | 3,022,863 | 3,022,998 |
| 3 | CDS | 3,023,233 | 3,023,361 |
| 2 | CDS | 3,023,474 | 3,023,530 |
| 1 | CDS | 3,023,847 | 3,023,941 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr16 | 3,072,626 | 3,073,943 | Link |
CDS sequence
ATGATCCTGCAGCAGCCCTTGCAGCGAGGCCCCCAGGGAGGGGCCCAGCGCCTCCCGCGGGCCGCCTTGGGGGTGACTTGGGGCCTGGACGCCAGCTCCCCTCTCCGAGGAGCTGTGCCCATGAGCACCAAGCGGCGCCTGGAGGAGGAGCAGGAGCCTCTGCGCAAGCAGTTTCTGTCTGAGGAGAACATGGCCACCCACTTCTCTCAACTCAGCCTGCACAATGACCACCCCTACTGCAGCCCCCCCATGACCTTCTCCCCAGCCCTGCCCCCACTCAGGAGCCCTTGCTCTGAGCTGCTTCTCTGGCGCTATCCTGGCAGCCTCATCCCTGAGGCCCTCCGTCTGCTGAGGCTGGGGGACACCCCCAGTCCCCCCTACCCTGCAACCCCAGCTGGGGACATAATGGAGCTCTGA
Amino sequence
MILQQPLQRGPQGGAQRLPRAALGVTWGLDASSPLRGAVPMSTKRRLEEEQEPLRKQFLSEENMATHFSQLSLHNDHPYCSPPMTFSPALPPLRSPCSELLLWRYPGSLIPEALRLLRLGDTPSPPYPATPAGDIMEL*