ENST00000445609.7 NPHP1
Information
- Transcript ID
- ENST00000445609.7
- Genome
- hg38
- Position
- chr2:110,123,348-110,205,013
- Strand
- -
- CDS length
- 2,034
- Amino acid length
- 678
- 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 |
|---|---|---|
| 20 | 110,123,348 | 110,124,063 |
| 19 | 110,125,637 | 110,125,681 |
| 18 | 110,129,186 | 110,129,259 |
| 17 | 110,131,679 | 110,131,791 |
| 16 | 110,143,542 | 110,143,641 |
| 15 | 110,144,493 | 110,144,569 |
| 14 | 110,146,753 | 110,146,835 |
| 13 | 110,147,916 | 110,148,026 |
| 12 | 110,150,182 | 110,150,256 |
| 11 | 110,160,127 | 110,160,255 |
| 10 | 110,161,603 | 110,161,697 |
| 9 | 110,163,048 | 110,163,135 |
| 8 | 110,164,688 | 110,164,730 |
| 7 | 110,165,052 | 110,165,155 |
| 6 | 110,168,452 | 110,168,553 |
| 5 | 110,169,806 | 110,169,998 |
| 4 | 110,178,423 | 110,178,547 |
| 3 | 110,179,624 | 110,179,684 |
| 2 | 110,201,421 | 110,201,494 |
| 1 | 110,204,900 | 110,205,013 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 20 | CDS | 110,123,791 | 110,124,063 |
| 19 | CDS | 110,125,637 | 110,125,681 |
| 18 | CDS | 110,129,186 | 110,129,259 |
| 17 | CDS | 110,131,679 | 110,131,791 |
| 16 | CDS | 110,143,542 | 110,143,641 |
| 15 | CDS | 110,144,493 | 110,144,569 |
| 14 | CDS | 110,146,753 | 110,146,835 |
| 13 | CDS | 110,147,916 | 110,148,026 |
| 12 | CDS | 110,150,182 | 110,150,256 |
| 11 | CDS | 110,160,127 | 110,160,255 |
| 10 | CDS | 110,161,603 | 110,161,697 |
| 9 | CDS | 110,163,048 | 110,163,135 |
| 8 | CDS | 110,164,688 | 110,164,730 |
| 7 | CDS | 110,165,052 | 110,165,155 |
| 6 | CDS | 110,168,452 | 110,168,553 |
| 5 | CDS | 110,169,806 | 110,169,998 |
| 4 | CDS | 110,178,423 | 110,178,547 |
| 3 | CDS | 110,179,624 | 110,179,684 |
| 2 | CDS | 110,201,421 | 110,201,494 |
| 1 | CDS | 110,204,900 | 110,204,968 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr2 | 110,880,925 | 110,962,590 | Link |
CDS sequence
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTGAAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAAGCTCTAGAACCCAATAAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAAAATGCTCTTCAAAAATTAAGCAAAGCTGATGAATCTGCACCTGTTGCAAACTATAATCAGAGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCTGTGACAATAAGCAGAGAAAATATAACTGAAGTTGGGGCACCTACTGAAGAAGAGGAAGAAAGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAGGAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTTGGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAGAAAGGGGAAATTCTCCTTGTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGTCTTGTTCCCAGAACCTACCTAGAGCCTTATAGTGAAGAAGAAGAAGGCCAAGAGTCAAGTGAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTTAAGCAAAGAACTGATCCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGCAGATAAACACTGTTGATGTGTTAACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTGGAGGAAGGGAATCAATTTCGAGCAAATTACTTCTTACAACCAGAGCTCATGCCTTCACAACTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACTATTAGGTCGAGACCAAGTCGTATTTCATTGATTCTGACATTATGGAGCTGTAAAATGATTCCTCTTCCAGGAATGAGCATACAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAATAAGGTTCTGAGCAACATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACATGGACCTTTTCTCCCCAGGTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGCTTTATCAGGTCTAATTCTGCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCAACTGGTGAAAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAACTTTTTGATGCCAGTGGAGTTCCTATTCCAGCAAAAACTTATGAGCTTTTCTTGAATGGTGGTACTCCTTATGAAAAAGGTATTGAAGTGGACCCTTCAATATCCAGAAGAGCACACGGCAGTGTTTTCTACCAGATTATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCCTTGAACAGAAGATCAAGAAATGTACTAAGTCTACTGCCAGAAACATTAATTGGAAATATGTGTTCTATTCACTTGTTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAAGACAGGATGAGCTTGCAAAGTACTGATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATGCTCTTGGAGCAGCCTGATGTGATGGATGCTCTCAGGAGTTCGTGGGCTGGAAAAGAAAGCACATTAAAAAGATCAGAGAAGAGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTTTACCATGACTGCGTGCTCCCACTTCTCCACTCCACACGCCTACCCCCATTCAGGTGGGCAGAAGAAGAGACTGAGACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAAGAAAACCAGGGCGCCCTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGACCTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA
Amino sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV*