ENST00000395568.6 PPHLN1

Information
Transcript ID
ENST00000395568.6
Genome
hg38
Position
chr12:42,326,166-42,447,327
Strand
+
CDS length
1,377
Amino acid length
459
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
Search Word
Target data :
MGeND data only
Category :
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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 42,326,166 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 42,441,429
11 42,442,641 42,442,741
12 42,446,066 42,446,290
13 42,446,592 42,447,327
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 42,441,429
11 CDS 42,442,641 42,442,741
12 CDS 42,446,066 42,446,290
13 CDS 42,446,592 42,446,618
Other genome
Genome Chromosome Start End Links
hg19 chr12 42,719,968 42,841,129 Link
CDS sequence
ATGTGGTCTGAGGGACGATATGAATATGAAAGAATTCCGAGAGAACGAGCACCTCCTCGAAGTCATCCCAGTGATGGCTACAATAGACTAGTTAATATTGTGCCAAAGAAACCACCACTGCTAGACAGACCTGGTGAAGGAAGCTACAATAGATATTACAGTCATGTTGATTACCGAGACTATGACGAGGGCCGCAGTTTTTCTCATGATCGAAGAAGTGGTCCACCTCACAGAGGAGATGAATCTGGTTATAGATGGACAAGAGACGATCATTCTGCAAGCAGGCAACCTGAATACAGGGACATGAGAGATGGCTTTAGAAGAAAAAGTTTCTACTCTTCCCATTATGCGAGAGAGCGGTCTCCTTATAAAAGGGACAATACTTTTTTCAGAGAATCACCTGTTGGCCGAAAGGATTCTCCACACAGCAGATCTGGTTCCAGTGTCAGTAGCAGAAGCTACTCTCCAGAAAGGAGCAAATCATACTCTTTCCATCAGTCTCAACATAGAAAGTCCGTGCGTCCTGGTGCCTCCTACAAACGGCAGAATGAAGGAAATCCTGAAAGAGATAAAGAGAGGCCTGTCCAGTCTTTGAAAACATCAAGAGATACTTCACCCTCAAGTGGTTCAGCAGTTTCTTCATCAAAGGTGTTAGACAAACCCAGTAGGCTAACTGAAAAGGAACTTGCTGAGGCTGCAAGCAAGTGGGCTGCTGAAAAGCTAGAGAAATCAGATGAAAGTAACTTGCCTGAAATTTCTGAGTATGAGGCGGGATCCACAGCACCATTGTTTACTGACCAGCCAGAGGAACCTGAGTCAAACACAACACATGGGATAGAATTATTTGAAGATAGTCAGCTAACCACTCGCTCTAAAGCAATAGCATCAAAAACCAAAGAGATTGAACAGGTTTACCGACAAGACTGTGAAACTTTCGGGATGGTGGTGAAAATGCTGATTGAAAAAGATCCTTCATTAGAAAAGTCTATACAGTTTGCATTGAGGCAGAATTTACATGAAATAGAGTCTGCAGGACAGACTTGGCAGCAGGTACCCCCTGTGAGGAACACTGAAATGGATCACGACGGAACCCCCGAAAACGAAGGCGAAGAGACTGCGCAGTCAGCCCCGCAGCCCCCGCAGGCCCCGCAGCCCCTGCAGCCCCGGAAGAAACGGGTTCGTCGGACGACACAGCTTCGTCGGACGACAGGAGCCCCAGACATTACCTGGGGGATGCTGAAGAAGACAACTCAGGAGGCTGAGAGGATCCTGCTCCGAACACAGACACCATTCACTCCAGAAAATTTGTTCCTTGCTATGCTCTCTGTTGTACATTGCAACTCACGCAAGGATGTAAAGCCAGAAAACAAGCAGTAA
Amino sequence
MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRPGEGSYNRYYSHVDYRDYDEGRSFSHDRRSGPPHRGDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDSPHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVLDKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIELFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQVPPVRNTEMDHDGTPENEGEETAQSAPQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEAERILLRTQTPFTPENLFLAMLSVVHCNSRKDVKPENKQ*