ENST00000676028.1 NPHP1
Information
- Transcript ID
- ENST00000676028.1
- Genome
- hg19
- Position
- chr2:110,881,015-110,962,566
- Strand
- -
- CDS length
- 1,851
- Amino acid length
- 617
- Gene symbol
- NPHP1
- Gene type
- protein-coding
- Gene description
- nephrocystin 1
- Gene Entrez Gene ID
- 4867
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 |
|---|---|---|
| 18 | 110,881,015 | 110,881,640 |
| 17 | 110,883,214 | 110,883,258 |
| 16 | 110,886,763 | 110,886,836 |
| 15 | 110,889,256 | 110,889,368 |
| 14 | 110,901,119 | 110,901,218 |
| 13 | 110,902,070 | 110,902,146 |
| 12 | 110,904,330 | 110,904,412 |
| 11 | 110,905,493 | 110,905,603 |
| 10 | 110,907,759 | 110,907,833 |
| 9 | 110,917,704 | 110,917,832 |
| 8 | 110,922,265 | 110,922,307 |
| 7 | 110,922,629 | 110,922,732 |
| 6 | 110,926,029 | 110,926,130 |
| 5 | 110,927,383 | 110,927,575 |
| 4 | 110,936,000 | 110,936,124 |
| 3 | 110,937,201 | 110,937,261 |
| 2 | 110,958,998 | 110,959,071 |
| 1 | 110,962,477 | 110,962,566 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 18 | CDS | 110,881,368 | 110,881,640 |
| 17 | CDS | 110,883,214 | 110,883,258 |
| 16 | CDS | 110,886,763 | 110,886,836 |
| 15 | CDS | 110,889,256 | 110,889,368 |
| 14 | CDS | 110,901,119 | 110,901,218 |
| 13 | CDS | 110,902,070 | 110,902,146 |
| 12 | CDS | 110,904,330 | 110,904,412 |
| 11 | CDS | 110,905,493 | 110,905,603 |
| 10 | CDS | 110,907,759 | 110,907,833 |
| 9 | CDS | 110,917,704 | 110,917,832 |
| 8 | CDS | 110,922,265 | 110,922,307 |
| 7 | CDS | 110,922,629 | 110,922,732 |
| 6 | CDS | 110,926,029 | 110,926,130 |
| 5 | CDS | 110,927,383 | 110,927,575 |
| 4 | CDS | 110,936,000 | 110,936,124 |
| 3 | CDS | 110,937,201 | 110,937,261 |
| 2 | CDS | 110,958,998 | 110,959,071 |
| 1 | CDS | 110,962,477 | 110,962,545 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr2 | 110,123,438 | 110,204,989 | Link |
CDS sequence
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTGAAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAAGCTCTAGAACCCAATAAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAAAATGCTCTTCAAAAATTAAGCAAAGCTGATGAATCTGCACCTGTTGCAAACTATAATCAGAGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCTGTGACAATAAGCAGAGAAAATATAACTGAAGTTGGGGCACCTACTGAAGAAGAGGAAGAAAGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAGGAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTTGGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAGAAAGGGGAAATTCTCCTTGTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGTCTTGTTCCCAGAACCTACCTAGAGCCTTATAGTGAAGAAGAAGAAGGCCAAGAGTCAAGTGAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTTAAGCAAAGAACTGATCCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGATTAGGTCGAGACCAAGTCGTATTTCATTGATTCTGACATTATGGAGCTGTAAAATGATTCCTCTTCCAGGAATGAGCATACAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAATAAGGTTCTGAGCAACATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACATGGACCTTTTCTCCCCAGGTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGCTTTATCAGGTCTAATTCTGCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCAACTGGTGAAAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAACTTTTTGATGCCAGTGGAGTTCCTATTCCAGCAAAAACTTATGAGCTTTTCTTGAATGGTGGTACTCCTTATGAAAAAGGTATTGAAGTGGACCCTTCAATATCCAGAAGAGCACACGGCAGTGTTTTCTACCAGATTATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCCTTGAACAGAAGATCAAGAAATGTACTAAGTCTACTGCCAGAAACATTAATTGGAAATATGTGTTCTATTCACTTGTTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAAGACAGGATGAGCTTGCAAAGTACTGATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATGCTCTTGGAGCAGCCTGATGTGATGGATGCTCTCAGGAGTTCGTGGGCTGGAAAAGAAAGCACATTAAAAAGATCAGAGAAGAGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTTTACCATGACTGCGTGCTCCCACTTCTCCACTCCACACGCCTACCCCCATTCAGGTGGGCAGAAGAAGAGACTGAGACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAAGAAAACCAGGGCGCCCTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGACCTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA
Amino sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV*