ENST00000392202.7 PIKFYVE

Information
Transcript ID
ENST00000392202.7
Genome
hg19
Position
chr2:209,130,991-209,170,273
Strand
+
CDS length
1,356
Amino acid length
452
Gene symbol
PIKFYVE
Gene type
protein-coding
Gene description
phosphoinositide kinase, FYVE-type zinc finger containing
Gene Entrez Gene ID
200576
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
1 209,130,991 209,131,139
2 209,136,235 209,136,415
3 209,138,308 209,138,457
4 209,150,450 209,150,657
5 209,153,453 209,153,542
6 209,163,365 209,163,503
7 209,165,661 209,165,818
8 209,166,966 209,167,077
9 209,168,895 209,169,042
10 209,169,570 209,170,273
CDS
Exon number Type Start Stop
2 CDS 209,136,244 209,136,415
3 CDS 209,138,308 209,138,457
4 CDS 209,150,450 209,150,657
5 CDS 209,153,453 209,153,542
6 CDS 209,163,365 209,163,503
7 CDS 209,165,661 209,165,818
8 CDS 209,166,966 209,167,077
9 CDS 209,168,895 209,169,042
10 CDS 209,169,570 209,169,748
Other genome
Genome Chromosome Start End Links
hg38 chr2 208,266,267 208,305,549 Link
CDS sequence
ATGGCCACAGATGATAAGACGTCCCCAACACTGGACTCTGCTAATGATTTGCCTCGATCTCCTACTAGTCCTTCTCATCTCACACACTTTAAACCTTTGACTCCTGATCAAGATGAGCCCCCTTTTAAATCAGCTTATAGTTCTTTTGTAAATCTCTTTCGTTTTAACAAAGAGAGAGCAGAAGGAGGCCAGGGAGAACAGCAGCCTTTGAGTGGAAGTTGGACCAGCCCTCAGCTCCCTTCGAGGACACAGTCTGTTAGGTCACCCACACCTTATAAAAAGCAGCTTAATGAGGAACTCCAGCGGCGCTCTTCAGCATTAGGAGACCTCCGAGCTTGCACATATTGTAGAAAAATAGCCTTAAGTTATGCTCATTCCACAGACAGTAATTCTATTGGGGAAGACTTGAATGCTCTTTCAGATTCTGCTTGCTCTGTGTCTGTGCTTGATCCAAGTGAACCCCGAACACCTGTTGGGAGTAGGAAAGCCAGCCGTAACATATTTTTAGAGGATGATTTGGCCTGGCAAAGTTTGATTCATCCAGATTCCTCAAATACTCCTCTTTCAACAAGACTTGTATCTGTGCAAGAGGATGCTGGGAAATCTCCTGCTCGAAATAGATCAGCCAGCATTACTAACCTGTCACTGGATAGATCTGGTTCTCCTATGGTACCTTCATATGAGACATCTGTCAGTCCCCAGGCTAACCGAACATATGTTAGGACAGAGACCACTGAGGATGAACGCAAAATTCTTCTGGACAGTGTGCAGTTAAAAGACCTGTGGAAAAAAATCTGCCATCACAGCAGTGGAATGGAGTTTCAGGATCACCGCTACTGGTTGAGAACGCATCCCAACTGCATTGTAGGAAAGGAATTAGTCAACTGGCTAATCCGAAATGGGCATATTGCCACAAGGGCACAAGCTATAGCAATTGGACAAGCAATGGTTGATGGACGTTGGCTGGATTGTGTTAGTCATCACGACCAGCTTTTCAGAGATGAGTATGCGCTGTATAGACCACTGCAGAGTACAGAATTTTCTGAGACGCCTTCTCCCGACAGTGACTCAGTGAACTCCGTGGAAGGACACTCTGAGCCATCCTGGTTTAAAGACATAAAGTTTGATGACAGTGACACAGAACAGATAGCTGAAGAAGGTGACGATAATTTGGCTAATTCTGCCAGTCCTAGCAAGCGCACATCAGTCAGCAGTTTCCAGTCCACAGTGGACAGTGACTCAGCCGCTTCTATCAGCCTGAACGTGGAGCTGGACAACGTGAACTTCCATATCAAGAAGCCCTCCAAGTACCCACATGTGCCCCCTCACCCTGCTGACCAAAAAGGTAGGAGGTAG
Amino sequence
MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERAEGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSSALGDLRACTYCRKIALSYAHSTDSNSIGEDLNALSDSACSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSPARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWKKICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLDCVSHHDQLFRDEYALYRPLQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQIAEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVNFHIKKPSKYPHVPPHPADQKGRR*