ENST00000592524.6 GJC1
Information
- Transcript ID
- ENST00000592524.6
- Genome
- hg38
- Position
- chr17:44,798,448-44,830,287
- Strand
- -
- CDS length
- 1,191
- Amino acid length
- 397
- Gene symbol
- GJC1
- Gene type
- protein-coding
- Gene description
- gap junction protein gamma 1
- Gene Entrez Gene ID
- 10052
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| 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 | : |
|
| 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 |
|---|---|---|
| 3 | 44,798,448 | 44,805,837 |
| 2 | 44,807,394 | 44,807,469 |
| 1 | 44,830,062 | 44,830,287 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 3 | CDS | 44,804,627 | 44,805,817 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr17 | 42,875,816 | 42,907,655 | Link |
CDS sequence
ATGAGTTGGAGCTTCCTGACTCGCCTGCTAGAGGAGATTCACAACCATTCCACATTTGTGGGGAAGATCTGGCTCACTGTTCTGATTGTCTTCCGGATCGTCCTTACAGCTGTAGGAGGAGAATCCATCTATTACGATGAGCAAAGCAAATTTGTGTGCAACACAGAACAGCCGGGCTGTGAGAATGTCTGTTATGATGCGTTTGCACCTCTCTCCCATGTACGCTTCTGGGTGTTCCAGATCATCCTGGTGGCAACTCCCTCTGTGATGTACCTGGGCTATGCTATCCACAAGATTGCCAAAATGGAGCACGGTGAAGCAGACAAGAAGGCAGCTCGGAGCAAGCCCTATGCAATGCGCTGGAAACAACACCGGGCTCTGGAAGAAACGGAGGAGGACAACGAAGAGGATCCTATGATGTATCCAGAGATGGAGTTAGAAAGTGATAAGGAAAATAAAGAGCAGAGCCAACCCAAACCTAAGCATGATGGCCGACGACGGATTCGGGAAGATGGGCTCATGAAAATCTATGTGCTGCAGTTGCTGGCAAGGACCGTGTTTGAGGTGGGTTTTCTGATAGGGCAGTATTTTCTGTATGGCTTCCAAGTCCACCCGTTTTATGTGTGCAGCAGACTTCCTTGTCCTCATAAGATAGACTGCTTTATTTCTAGACCCACTGAAAAGACCATCTTCCTTCTGATAATGTATGGTGTTACAGGCCTTTGCCTCTTGCTTAACATTTGGGAGATGCTTCATTTAGGGTTTGGGACCATTCGAGACTCACTAAACAGTAAAAGGAGGGAACTTGAGGATCCGGGTGCTTATAATTATCCTTTCACTTGGAATACACCATCTGCTCCCCCTGGCTATAACATTGCTGTCAAACCAGATCAAATCCAGTACACCGAACTGTCCAATGCTAAGATCGCCTACAAGCAAAACAAGGCCAACACAGCCCAGGAACAGCAGTATGGCAGCCATGAGGAGAACCTCCCAGCTGACCTGGAGGCTCTGCAGCGGGAGATCAGGATGGCTCAGGAACGCTTGGATCTGGCAGTTCAGGCCTACAGTCACCAAAACAACCCTCATGGTCCCCGGGAGAAGAAGGCCAAAGTGGGGTCCAAAGCTGGGTCCAACAAAAGCACTGCCAGTAGCAAATCAGGGGATGGGAAGACCTCCGTCTGGATTTAA
Amino sequence
MSWSFLTRLLEEIHNHSTFVGKIWLTVLIVFRIVLTAVGGESIYYDEQSKFVCNTEQPGCENVCYDAFAPLSHVRFWVFQIILVATPSVMYLGYAIHKIAKMEHGEADKKAARSKPYAMRWKQHRALEETEEDNEEDPMMYPEMELESDKENKEQSQPKPKHDGRRRIREDGLMKIYVLQLLARTVFEVGFLIGQYFLYGFQVHPFYVCSRLPCPHKIDCFISRPTEKTIFLLIMYGVTGLCLLLNIWEMLHLGFGTIRDSLNSKRRELEDPGAYNYPFTWNTPSAPPGYNIAVKPDQIQYTELSNAKIAYKQNKANTAQEQQYGSHEENLPADLEALQREIRMAQERLDLAVQAYSHQNNPHGPREKKAKVGSKAGSNKSTASSKSGDGKTSVWI*