ENST00000675067.1 NPHP1

Information
Transcript ID
ENST00000675067.1
Genome
hg38
Position
chr2:110,123,438-110,204,988
Strand
-
CDS length
1,233
Amino acid length
411
Gene symbol
NPHP1
Gene type
protein-coding
Gene description
nephrocystin 1
Gene Entrez Gene ID
4867
Variants

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Target data :
MGeND data only
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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
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MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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
18 110,123,438 110,124,063
17 110,125,637 110,125,681
16 110,129,186 110,129,259
15 110,131,679 110,131,791
14 110,143,542 110,143,641
13 110,144,493 110,144,569
12 110,146,753 110,146,835
11 110,147,916 110,148,026
10 110,150,182 110,150,256
9 110,160,127 110,160,255
8 110,161,603 110,161,697
7 110,163,048 110,164,730
6 110,165,052 110,165,155
5 110,168,452 110,168,553
4 110,169,806 110,169,998
3 110,178,423 110,178,547
2 110,179,624 110,179,684
1 110,204,900 110,204,988
CDS
Exon number Type Start Stop
18 CDS 110,123,791 110,124,063
17 CDS 110,125,637 110,125,681
16 CDS 110,129,186 110,129,259
15 CDS 110,131,679 110,131,791
14 CDS 110,143,542 110,143,641
13 CDS 110,144,493 110,144,569
12 CDS 110,146,753 110,146,835
11 CDS 110,147,916 110,148,026
10 CDS 110,150,182 110,150,256
9 CDS 110,160,127 110,160,255
8 CDS 110,161,603 110,161,697
7 CDS 110,163,048 110,163,105
Other genome
Genome Chromosome Start End Links
hg19 chr2 110,881,015 110,962,565 Link
CDS sequence
ATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTGGAGGAAGGGAATCAATTTCGAGCAAATTACTTCTTACAACCAGAGCTCATGCCTTCACAACTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACTATTAGGTCGAGACCAAGTCGTATTTCATTGATTCTGACATTATGGAGCTGTAAAATGATTCCTCTTCCAGGAATGAGCATACAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAATAAGGTTCTGAGCAACATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACATGGACCTTTTCTCCCCAGGTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGCTTTATCAGGTCTAATTCTGCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCAACTGGTGAAAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAACTTTTTGATGCCAGTGGAGTTCCTATTCCAGCAAAAACTTATGAGCTTTTCTTGAATGGTGGTACTCCTTATGAAAAAGGTATTGAAGTGGACCCTTCAATATCCAGAAGAGCACACGGCAGTGTTTTCTACCAGATTATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCCTTGAACAGAAGATCAAGAAATGTACTAAGTCTACTGCCAGAAACATTAATTGGAAATATGTGTTCTATTCACTTGTTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAAGACAGGATGAGCTTGCAAAGTACTGATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATGCTCTTGGAGCAGCCTGATGTGATGGATGCTCTCAGGAGTTCGTGGGCTGGAAAAGAAAGCACATTAAAAAGATCAGAGAAGAGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTTTACCATGACTGCGTGCTCCCACTTCTCCACTCCACACGCCTACCCCCATTCAGGTGGGCAGAAGAAGAGACTGAGACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAAGAAAACCAGGGCGCCCTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGACCTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA
Amino sequence
MGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV*