ENST00000619544.4 PPHLN1

Information
Transcript ID
ENST00000619544.4
Genome
hg19
Position
chr12:42,719,951-42,840,420
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 42,719,951 42,720,031
2 42,726,462 42,726,504
3 42,729,685 42,729,776
4 42,748,963 42,749,024
5 42,768,665 42,768,876
6 42,778,742 42,778,798
7 42,781,258 42,781,337
8 42,787,372 42,787,491
9 42,792,656 42,792,796
10 42,835,117 42,835,231
11 42,836,443 42,836,543
12 42,839,775 42,840,092
13 42,840,394 42,840,420
CDS
Exon number Type Start Stop
3 CDS 42,729,705 42,729,776
4 CDS 42,748,963 42,749,024
5 CDS 42,768,665 42,768,876
6 CDS 42,778,742 42,778,798
7 CDS 42,781,258 42,781,337
8 CDS 42,787,372 42,787,491
9 CDS 42,792,656 42,792,796
10 CDS 42,835,117 42,835,231
11 CDS 42,836,443 42,836,543
12 CDS 42,839,775 42,840,092
13 CDS 42,840,394 42,840,420
Other genome
Genome Chromosome Start End Links
hg38 chr12 42,326,149 42,446,618 Link
CDS sequence
ATGTGGTCTGAGGGACGATATGAATATGAAAGAATTCCGAGAGAACGAGCACCTCCTCGAAGTCATCCCAGTGATGAATCTGGTTATAGATGGACAAGAGACGATCATTCTGCAAGCAGGCAACCTGAATACAGGGACATGAGAGATGGCTTTAGAAGAAAAAGTTTCTACTCTTCCCATTATGCGAGAGAGCGGTCTCCTTATAAAAGGGACAATACTTTTTTCAGAGAATCACCTGTTGGCCGAAAGGATTCTCCACACAGCAGATCTGGTTCCAGTGTCAGTAGCAGAAGCTACTCTCCAGAAAGGAGCAAATCATACTCTTTCCATCAGTCTCAACATAGAAAGTCCGTGCGTCCTGGTGCCTCCTACAAACGGCAGAATGAAGGAAATCCTGAAAGAGATAAAGAGAGGCCTGTCCAGTCTTTGAAAACATCAAGAGATACTTCACCCTCAAGTGGTTCAGCAGTTTCTTCATCAAAGGTGTTAGACAAACCCAGTAGGCTAACTGAAAAGGAACTTGCTGAGGCTGCAAGCAAGTGGGCTGCTGAAAAGCTAGAGAAATCAGATGAAAGTAACTTGCCTGAAATTTCTGAGTATGAGGCGGGATCCACAGCACCATTGTTTACTGACCAGCCAGAGGAACCTGAGTCAAACACAACACATGGGATAGAATTATTTGAAGATAGTCAGCTAACCACTCGCTCTAAAGCAATAGCATCAAAAACCAAAGAGATTGAACAGGTTTACCGACAAGACTGTGAAACTTTCGGGATGGTGGTGAAAATGCTGATTGAAAAAGATCCTTCATTAGAAAAGTCTATACAGTTTGCATTGAGGCAGAATTTACATGAAATAGAGTCTGCAGGACAGACTTGGCAGCAGGTACCCCCTGTGAGGAACACTGAAATGGATCACGACGGAACCCCCGAAAACGAAGGCGAAGAGACTGCGCAGTCAGCCCTCTTTGGATTCCAGCACGACGCATCAAACCATACCATAGTGGGGCTAGGACCCAACCAAGTACCAGAAATGAAGGAAACGACCCTGCAGGCCCCGCAGCCCCCGCAGGCCCCGCAGCCCCTGCAGCCCCGGAAGAAACGGGTTCGTCGGACGACACAGCTTCGTCGGACGACAGGAGCCCCAGACATTACCTGGGGGATGCTGAAGAAGACAACTCAGGAGGCTGAGAGGATCCTGCTCCGAACACAGACACCATTCACTCCAGAAAATTTGTTCCTTGCTATGCTCTCTGTTGTACATTGCAACTCACGCAAGGATGTAAAGCCAGAAAACAAGCAGTAA
Amino sequence
MWSEGRYEYERIPRERAPPRSHPSDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDSPHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVLDKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIELFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQVPPVRNTEMDHDGTPENEGEETAQSALFGFQHDASNHTIVGLGPNQVPEMKETTLQAPQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEAERILLRTQTPFTPENLFLAMLSVVHCNSRKDVKPENKQ*