ENST00000647243.1 GJB6
Information
- Transcript ID
- ENST00000647243.1
- Genome
- hg38
- Position
- chr13:20,221,996-20,232,191
- Strand
- -
- CDS length
- 786
- Amino acid length
- 262
- Gene symbol
- GJB6
- Gene type
- protein-coding
- Gene description
- gap junction protein beta 6
- Gene Entrez Gene ID
- 10804
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 | : |
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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 |
|---|---|---|
| 5 | 20,221,996 | 20,223,495 |
| 4 | 20,229,580 | 20,229,749 |
| 3 | 20,230,698 | 20,230,807 |
| 2 | 20,231,382 | 20,231,505 |
| 1 | 20,232,097 | 20,232,191 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 5 | CDS | 20,222,695 | 20,223,480 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr13 | 20,796,135 | 20,806,330 | Link |
CDS sequence
ATGGATTGGGGGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCCACCAGCATCGGGAAGGTGTGGATCACAGTCATCTTTATTTTCCGAGTCATGATCCTCGTGGTGGCTGCCCAGGAAGTGTGGGGTGACGAGCAAGAGGACTTCGTCTGCAACACACTGCAACCGGGATGCAAAAATGTGTGCTATGACCACTTTTTCCCGGTGTCCCACATCCGGCTGTGGGCCCTCCAGCTGATCTTCGTCTCCACCCCAGCGCTGCTGGTGGCCATGCATGTGGCCTACTACAGGCACGAAACCACTCGCAAGTTCAGGCGAGGAGAGAAGAGGAATGATTTCAAAGACATAGAGGACATTAAAAAGCAGAAGGTTCGGATAGAGGGGTCGCTGTGGTGGACGTACACCAGCAGCATCTTTTTCCGAATCATCTTTGAAGCAGCCTTTATGTATGTGTTTTACTTCCTTTACAATGGGTACCACCTGCCCTGGGTGTTGAAATGTGGGATTGACCCCTGCCCCAACCTTGTTGACTGCTTTATTTCTAGGCCAACAGAGAAGACCGTGTTTACCATTTTTATGATTTCTGCGTCTGTGATTTGCATGCTGCTTAACGTGGCAGAGTTGTGCTACCTGCTGCTGAAAGTGTGTTTTAGGAGATCAAAGAGAGCACAGACGCAAAAAAATCACCCCAATCATGCCCTAAAGGAGAGTAAGCAGAATGAAATGAATGAGCTGATTTCAGATAGTGGTCAAAATGCAATCACAGGTTTCCCAAGCTAA
Amino sequence
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS*