ENST00000358314.12 PPHLN1

Information
Transcript ID
ENST00000358314.12
Genome
hg38
Position
chr12:42,326,167-42,442,181
Strand
+
CDS length
1,104
Amino acid length
368
Gene symbol
PPHLN1
Gene type
protein-coding
Gene description
periphilin 1
Gene Entrez Gene ID
51535
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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Target data :
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
1 42,326,167 42,326,229
2 42,335,883 42,335,974
3 42,351,885 42,352,049
4 42,355,161 42,355,222
5 42,374,863 42,375,074
6 42,384,940 42,384,996
7 42,387,456 42,387,535
8 42,393,570 42,393,689
9 42,398,854 42,398,994
10 42,441,315 42,442,181
CDS
Exon number Type Start Stop
2 CDS 42,335,903 42,335,974
3 CDS 42,351,885 42,352,049
4 CDS 42,355,161 42,355,222
5 CDS 42,374,863 42,375,074
6 CDS 42,384,940 42,384,996
7 CDS 42,387,456 42,387,535
8 CDS 42,393,570 42,393,689
9 CDS 42,398,854 42,398,994
10 CDS 42,441,315 42,441,509
Other genome
Genome Chromosome Start End Links
hg19 chr12 42,719,969 42,835,983 Link
CDS sequence
ATGTGGTCTGAGGGACGATATGAATATGAAAGAATTCCGAGAGAACGAGCACCTCCTCGAAGTCATCCCAGTGATGGCTACAATAGACTAGTTAATATTGTGCCAAAGAAACCACCACTGCTAGACAGACCTGGTGAAGGAAGCTACAATAGATATTACAGTCATGTTGATTACCGAGACTATGACGAGGGCCGCAGTTTTTCTCATGATCGAAGAAGTGGTCCACCTCACAGAGGAGATGAATCTGGTTATAGATGGACAAGAGACGATCATTCTGCAAGCAGGCAACCTGAATACAGGGACATGAGAGATGGCTTTAGAAGAAAAAGTTTCTACTCTTCCCATTATGCGAGAGAGCGGTCTCCTTATAAAAGGGACAATACTTTTTTCAGAGAATCACCTGTTGGCCGAAAGGATTCTCCACACAGCAGATCTGGTTCCAGTGTCAGTAGCAGAAGCTACTCTCCAGAAAGGAGCAAATCATACTCTTTCCATCAGTCTCAACATAGAAAGTCCGTGCGTCCTGGTGCCTCCTACAAACGGCAGAATGAAGGAAATCCTGAAAGAGATAAAGAGAGGCCTGTCCAGTCTTTGAAAACATCAAGAGATACTTCACCCTCAAGTGGTTCAGCAGTTTCTTCATCAAAGGTGTTAGACAAACCCAGTAGGCTAACTGAAAAGGAACTTGCTGAGGCTGCAAGCAAGTGGGCTGCTGAAAAGCTAGAGAAATCAGATGAAAGTAACTTGCCTGAAATTTCTGAGTATGAGGCGGGATCCACAGCACCATTGTTTACTGACCAGCCAGAGGAACCTGAGTCAAACACAACACATGGGATAGAATTATTTGAAGATAGTCAGCTAACCACTCGCTCTAAAGCAATAGCATCAAAAACCAAAGAGATTGAACAGGTTTACCGACAAGACTGTGAAACTTTCGGGATGGTGGTGAAAATGCTGATTGAAAAAGATCCTTCATTAGAAAAGTCTATACAGTTTGCATTGAGGCAGAATTTACATGAAATAGGTGAGCGGTGTGTTGAAGAACTCAAGCATTTCATTGCAGAGTATGATACTTCCACTCAAGATTTTGGAGAGCCTTTTTAG
Amino sequence
MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRPGEGSYNRYYSHVDYRDYDEGRSFSHDRRSGPPHRGDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDSPHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVLDKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIELFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIGERCVEELKHFIAEYDTSTQDFGEPF*