ENST00000524753.4 GTF2H1
Information
- Transcript ID
- ENST00000524753.4
- Genome
- hg38
- Position
- chr11:18,338,217-18,348,831
- Strand
- +
- CDS length
- 546
- Amino acid length
- 182
- Gene symbol
- GTF2H1
- Gene type
- protein-coding
- Gene description
- general transcription factor IIH subunit 1
- Gene Entrez Gene ID
- 2965
Variants
Display target variant
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
|
| 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 |
|---|---|---|
| 1 | 18,338,217 | 18,338,274 |
| 2 | 18,339,564 | 18,339,657 |
| 3 | 18,341,261 | 18,341,410 |
| 4 | 18,341,528 | 18,341,607 |
| 5 | 18,347,588 | 18,347,715 |
| 6 | 18,347,832 | 18,348,831 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 3 | CDS | 18,341,266 | 18,341,410 |
| 4 | CDS | 18,341,528 | 18,341,607 |
| 5 | CDS | 18,347,588 | 18,347,715 |
| 6 | CDS | 18,347,832 | 18,348,024 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr11 | 18,359,764 | 18,370,378 | Link |
CDS sequence
ATGAAATATGCAGAAAATGTTCCCCACAACATGACAGAGAAGGAATTCTGGACACGTTTTTTCCAGTCCCATTATTTTCACAGGGATCGGCTGAATACAGGGTCAAAGGATCTCTTTGCAGAATGTGCCAAAATAGATGAAAAAGGCCTAAAAACAATGGTTTCATTAGGAGTGAAAAACCCACTACTAGATTTAACAGCTTTGGAAGATAAACCATTAGATGAGGGCTATGGCATTTCCTCTGTGCCATCTGCTTCCAATTCTAAATCCATAAAAGAGAATAGTAATGCTGCCATCATCAAGAGATTTAACCATCACAGTGCCATGGTCCTGGCAGCTGGACTCAGAAAACAAGAAGCACAAAATGAACAAACTAGTGAGCCCAGCAACATGGATGGAAATTCCGGAGATGCAGACTGCTTTCAGCCAGCAGTCAAAAGGGTATGGGCAAAAAAATATGAACCATTTGGGGCTCAAGTTTCTCCAAATACTTTATGTGACTGCAAGTACTGTATACGCTTATTTCCTGTGACTCAGTTCTTCTAA
Amino sequence
MKYAENVPHNMTEKEFWTRFFQSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKPLDEGYGISSVPSASNSKSIKENSNAAIIKRFNHHSAMVLAAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRVWAKKYEPFGAQVSPNTLCDCKYCIRLFPVTQFF*