ENST00000374516.8 PHF1

Information
Transcript ID
ENST00000374516.8
Genome
hg19
Position
chr6:33,378,791-33,384,216
Strand
+
CDS length
1,704
Amino acid length
568
Gene symbol
PHF1
Gene type
protein-coding
Gene description
PHD finger protein 1
Gene Entrez Gene ID
5252
Variants

Display target variant


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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
Category :
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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 33,378,791 33,378,992
2 33,380,025 33,380,199
3 33,380,285 33,380,366
4 33,380,475 33,380,570
5 33,380,973 33,381,073
6 33,381,186 33,381,334
7 33,381,513 33,381,608
8 33,381,818 33,381,886
9 33,382,020 33,382,143
10 33,382,254 33,382,321
11 33,382,502 33,382,606
12 33,382,732 33,382,921
13 33,383,012 33,383,106
14 33,383,367 33,383,447
15 33,383,587 33,384,216
CDS
Exon number Type Start Stop
2 CDS 33,380,041 33,380,199
3 CDS 33,380,285 33,380,366
4 CDS 33,380,475 33,380,570
5 CDS 33,380,973 33,381,073
6 CDS 33,381,186 33,381,334
7 CDS 33,381,513 33,381,608
8 CDS 33,381,818 33,381,886
9 CDS 33,382,020 33,382,143
10 CDS 33,382,254 33,382,321
11 CDS 33,382,502 33,382,606
12 CDS 33,382,732 33,382,921
13 CDS 33,383,012 33,383,106
14 CDS 33,383,367 33,383,447
15 CDS 33,383,587 33,383,875
Other genome
Genome Chromosome Start End Links
hg38 chr6 33,411,014 33,416,439 Link
CDS sequence
ATGGCGCAGCCCCCCCGGCTGAGCCGCTCTGGTGCCTCCTCACTTTGGGACCCAGCTTCTCCTGCTCCCACCTCTGGCCCCAGGCCTCGGCTTTGGGAGGGTCAAGATGTGCTGGCCAGATGGACTGATGGGCTGCTATACTTGGGTACCATCAAAAAGGTGGACAGTGCTAGGGAGGTGTGTCTGGTCCAGTTTGAGGATGATTCGCAGTTTCTGGTTCTATGGAAAGACATTAGCCCTGCTGCCCTCCCTGGAGAGGAACTCCTCTGTTGTGTCTGTCGCTCTGAGACTGTGGTCCCTGGGAACCGGCTGGTCAGCTGTGAGAAGTGTCGCCATGCTTATCACCAGGACTGCCATGTTCCCAGGGCTCCAGCCCCTGGAGAGGGAGAGGGCACATCCTGGGTATGCCGCCAGTGTGTCTTTGCGATCGCCACCAAGAGGGGAGGTGCCCTGAAGAAGGGCCCCTATGCCCGGGCCATGCTGGGTATGAAGCTTTCTCTGCCATATGGACTGAAGGGGCTGGACTGGGATGCTGGACATCTGAGCAACCGACAGCAGAGTTACTGTTACTGTGGTGGCCCTGGGGAGTGGAACCTGAAAATGCTGCAGTGCCGGAGCTGCCTGCAGTGGTTCCATGAGGCCTGCACCCAGTGTCTGAGCAAGCCCCTCCTCTATGGGGACAGGTTCTATGAATTTGAATGCTGTGTGTGTCGCGGGGGCCCTGAGAAAGTCCGGAGACTACAGCTTCGCTGGGTGGATGTGGCCCATCTTGTCCTGTATCACCTCAGTGTTTGCTGTAAGAAGAAATACTTTGATTTTGATCGTGAGATCCTCCCCTTCACTTCTGAGAATTGGGACAGTTTGCTCCTGGGGGAGCTTTCAGACACCCCCAAAGGAGAACGTTCTTCCAGGCTCCTCTCTGCTCTTAACAGCCACAAGGACCGTTTCATTTCAGGGAGAGAGATTAAGAAGAGGAAATGTTTGTTTGGTCTCCATGCTCGGATGCCTCCCCCTGTGGAGCCCCCTACTGGAGATGGAGCACTCACCAGCTTCCCTTCAGGGCAGGGCCCTGGGGGAGGGGTCTCACGTCCCCTGGGGAAGCGCCGGAGGCCGGAGCCAGAGCCCCTGAGGAGGAGGCAGAAGGGGAAAGTGGAGGAGCTGGGGCCACCCTCAGCAGTGCGCAATCAGCCCGAGCCCCAGGAGCAGAGGGAGCGGGCTCATCTGCAGAGGGCACTGCAGGCCTCAGTGTCTCCACCATCCCCCAGCCCTAACCAGAGTTACCAGGGCAGCAGCGGCTACAACTTCCGGCCCACAGATGCCCGCTGCCTGCCCAGCAGCCCCATCCGGATGTTTGCTTCCTTCCACCCTTCTGCCAGCACCGCAGGGACCTCTGGGGACAGTGGACCCCCAGACAGGTCACCCCTGGAACTTCACATTGGTTTCCCCACAGACATCCCTAAAAGTGCCCCCCACTCGATGACTGCCTCATCTTCCTCAGTTTCATCCCCATCCCCAGGTCTTCCTAGACGCTCAGCACCCCCTTCTCCCCTGTGCCGTAGTTTGTCTCCTGGGACTGGGGGAGGAGTCCGAGGTGGGGTTGGTTACCTGTCCCGAGGGGACCCTGTCCGGGTCCTTGCTCGGAGAGTACGGCCTGATGGCTCTGTGCAGTACCTGGTTGAGTGGGGAGGAGGGGGCATCTTCTGA
Amino sequence
MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRMFASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGDPVRVLARRVRPDGSVQYLVEWGGGGIF*