ENST00000310778.5 HAP1
Information
- Transcript ID
- ENST00000310778.5
- Genome
- hg19
- Position
- chr17:39,878,892-39,890,896
- Strand
- -
- CDS length
- 2,016
- Amino acid length
- 672
- Gene symbol
- HAP1
- Gene type
- protein-coding
- Gene description
- huntingtin associated protein 1
- Gene Entrez Gene ID
- 9001
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| 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 |
|---|---|---|
| 12 | 39,878,892 | 39,881,406 |
| 11 | 39,882,111 | 39,882,149 |
| 10 | 39,883,305 | 39,883,396 |
| 9 | 39,883,550 | 39,883,705 |
| 8 | 39,884,014 | 39,884,088 |
| 7 | 39,884,453 | 39,884,583 |
| 6 | 39,887,745 | 39,887,811 |
| 5 | 39,887,890 | 39,887,995 |
| 4 | 39,888,189 | 39,888,370 |
| 3 | 39,888,482 | 39,888,646 |
| 2 | 39,888,971 | 39,889,050 |
| 1 | 39,890,418 | 39,890,896 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 12 | CDS | 39,880,953 | 39,881,406 |
| 11 | CDS | 39,882,111 | 39,882,149 |
| 10 | CDS | 39,883,305 | 39,883,396 |
| 9 | CDS | 39,883,550 | 39,883,705 |
| 8 | CDS | 39,884,014 | 39,884,088 |
| 7 | CDS | 39,884,453 | 39,884,583 |
| 6 | CDS | 39,887,745 | 39,887,811 |
| 5 | CDS | 39,887,890 | 39,887,995 |
| 4 | CDS | 39,888,189 | 39,888,370 |
| 3 | CDS | 39,888,482 | 39,888,646 |
| 2 | CDS | 39,888,971 | 39,889,050 |
| 1 | CDS | 39,890,418 | 39,890,886 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr17 | 41,722,640 | 41,734,644 | Link |
CDS sequence
ATGCGCCCGAAGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCCCGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAGACGCCAGCCGCCTACGTTGGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCACTGTGTCCTAACCTACCTCCGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAAGTGATGTTATATTTGCTGGAGGAGCTTCTCCCACCTGTCTGGGAGAGCGTTACCTATGGGATGGTCCTGCAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGTCCCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCCCTGCTGGGCTCAGCCAAGGAGGAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCTACTCAGATTCTGATGAGGAGGATGAGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAGAAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATGCCCCTAAGCTGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTCGGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGTATGGGGCTGAGACTGAAAAGTTGCAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCAGTGTCCACTGGGTCTGCCACCCATTACCCATACAGCGTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTTCGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGAGGCCAGCGGCTTGGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGA
Amino sequence
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR*