ENST00000432191.6 PPHLN1

Information
Transcript ID
ENST00000432191.6
Genome
hg19
Position
chr12:42,719,980-42,842,420
Strand
+
CDS length
1,305
Amino acid length
435
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 42,719,980 42,720,031
2 42,729,685 42,729,776
3 42,748,963 42,749,024
4 42,768,665 42,768,876
5 42,778,742 42,778,798
6 42,781,258 42,781,337
7 42,787,372 42,787,491
8 42,792,656 42,792,796
9 42,835,117 42,835,231
10 42,836,443 42,836,543
11 42,839,775 42,840,092
12 42,840,394 42,842,420
CDS
Exon number Type Start Stop
2 CDS 42,729,705 42,729,776
3 CDS 42,748,963 42,749,024
4 CDS 42,768,665 42,768,876
5 CDS 42,778,742 42,778,798
6 CDS 42,781,258 42,781,337
7 CDS 42,787,372 42,787,491
8 CDS 42,792,656 42,792,796
9 CDS 42,835,117 42,835,231
10 CDS 42,836,443 42,836,543
11 CDS 42,839,775 42,840,092
12 CDS 42,840,394 42,840,420
Other genome
Genome Chromosome Start End Links
hg38 chr12 42,326,178 42,448,618 Link
CDS sequence
ATGTGGTCTGAGGGACGATATGAATATGAAAGAATTCCGAGAGAACGAGCACCTCCTCGAAGTCATCCCAGTGATGAATCTGGTTATAGATGGACAAGAGACGATCATTCTGCAAGCAGGCAACCTGAATACAGGGACATGAGAGATGGCTTTAGAAGAAAAAGTTTCTACTCTTCCCATTATGCGAGAGAGCGGTCTCCTTATAAAAGGGACAATACTTTTTTCAGAGAATCACCTGTTGGCCGAAAGGATTCTCCACACAGCAGATCTGGTTCCAGTGTCAGTAGCAGAAGCTACTCTCCAGAAAGGAGCAAATCATACTCTTTCCATCAGTCTCAACATAGAAAGTCCGTGCGTCCTGGTGCCTCCTACAAACGGCAGAATGAAGGAAATCCTGAAAGAGATAAAGAGAGGCCTGTCCAGTCTTTGAAAACATCAAGAGATACTTCACCCTCAAGTGGTTCAGCAGTTTCTTCATCAAAGGTGTTAGACAAACCCAGTAGGCTAACTGAAAAGGAACTTGCTGAGGCTGCAAGCAAGTGGGCTGCTGAAAAGCTAGAGAAATCAGATGAAAGTAACTTGCCTGAAATTTCTGAGTATGAGGCGGGATCCACAGCACCATTGTTTACTGACCAGCCAGAGGAACCTGAGTCAAACACAACACATGGGATAGAATTATTTGAAGATAGTCAGCTAACCACTCGCTCTAAAGCAATAGCATCAAAAACCAAAGAGATTGAACAGGTTTACCGACAAGACTGTGAAACTTTCGGGATGGTGGTGAAAATGCTGATTGAAAAAGATCCTTCATTAGAAAAGTCTATACAGTTTGCATTGAGGCAGAATTTACATGAAATAGAGTCTGCAGGACAGACTTGGCAGCAGGTACCCCCTGTGAGGAACACTGAAATGGATCACGACGGAACCCCCGAAAACGAAGGCGAAGAGACTGCGCAGTCAGCCCTCTTTGGATTCCAGCACGACGCATCAAACCATACCATAGTGGGGCTAGGACCCAACCAAGTACCAGAAATGAAGGAAACGACCCTGCAGGCCCCGCAGCCCCCGCAGGCCCCGCAGCCCCTGCAGCCCCGGAAGAAACGGGTTCGTCGGACGACACAGCTTCGTCGGACGACAGGAGCCCCAGACATTACCTGGGGGATGCTGAAGAAGACAACTCAGGAGGCTGAGAGGATCCTGCTCCGAACACAGACACCATTCACTCCAGAAAATTTGTTCCTTGCTATGCTCTCTGTTGTACATTGCAACTCACGCAAGGATGTAAAGCCAGAAAACAAGCAGTAA
Amino sequence
MWSEGRYEYERIPRERAPPRSHPSDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDSPHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVLDKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIELFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQVPPVRNTEMDHDGTPENEGEETAQSALFGFQHDASNHTIVGLGPNQVPEMKETTLQAPQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEAERILLRTQTPFTPENLFLAMLSVVHCNSRKDVKPENKQ*