ENST00000453096.6 GTF2H1

Information
Transcript ID
ENST00000453096.6
Genome
hg38
Position
chr11:18,322,295-18,366,261
Strand
+
CDS length
1,647
Amino acid length
549
Gene symbol
GTF2H1
Gene type
protein-coding
Gene description
general transcription factor IIH subunit 1
Gene Entrez Gene ID
2965
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 18,322,295 18,322,740
2 18,325,947 18,326,153
3 18,333,060 18,333,228
4 18,335,754 18,335,946
5 18,338,109 18,338,274
6 18,339,564 18,339,657
7 18,341,261 18,341,410
8 18,341,528 18,341,607
9 18,347,588 18,347,715
10 18,347,832 18,347,919
11 18,351,881 18,351,969
12 18,352,329 18,352,446
13 18,357,952 18,358,042
14 18,358,525 18,358,640
15 18,360,615 18,360,707
16 18,365,783 18,366,261
CDS
Exon number Type Start Stop
3 CDS 18,333,075 18,333,228
4 CDS 18,335,754 18,335,946
5 CDS 18,338,109 18,338,274
6 CDS 18,339,564 18,339,657
7 CDS 18,341,261 18,341,410
8 CDS 18,341,528 18,341,607
9 CDS 18,347,588 18,347,715
10 CDS 18,347,832 18,347,919
11 CDS 18,351,881 18,351,969
12 CDS 18,352,329 18,352,446
13 CDS 18,357,952 18,358,042
14 CDS 18,358,525 18,358,640
15 CDS 18,360,615 18,360,707
16 CDS 18,365,783 18,365,869
Other genome
Genome Chromosome Start End Links
hg19 chr11 18,343,842 18,387,808 Link
CDS sequence
ATGGCAACCTCATCTGAAGAAGTTTTGCTGATTGTAAAGAAAGTGCGTCAAAAGAAGCAGGATGGAGCTCTGTACCTCATGGCAGAAAGAATTGCTTGGGCACCTGAAGGCAAAGATAGATTTACAATCAGCCATATGTATGCAGATATTAAATGCCAGAAAATTAGTCCAGAAGGAAAAGCTAAAATTCAGCTTCAGCTGGTCCTACATGCAGGGGACACAACTAACTTCCATTTTTCCAATGAAAGCACAGCAGTGAAAGAGCGAGATGCAGTAAAAGACCTTCTTCAGCAGCTGCTGCCCAAATTCAAGAGGAAAGCAAATAAAGAACTGGAAGAGAAGAACAGAATGCTGCAAGAAGATCCTGTTTTGTTTCAGCTTTATAAAGACCTTGTTGTGAGTCAAGTGATCAGTGCTGAGGAATTCTGGGCCAATCGTTTAAATGTGAATGCAACAGATAGTTCTTCCACATCCAATCATAAGCAGGATGTTGGCATTTCTGCTGCATTTCTGGCTGATGTCCGGCCCCAAACTGATGGCTGTAACGGTCTAAGATATAATTTAACTTCTGATATCATTGAGTCCATATTTAGGACCTATCCAGCAGTAAAAATGAAATATGCAGAAAATGTTCCCCACAACATGACAGAGAAGGAATTCTGGACACGTTTTTTCCAGTCCCATTATTTTCACAGGGATCGGCTGAATACAGGGTCAAAGGATCTCTTTGCAGAATGTGCCAAAATAGATGAAAAAGGCCTAAAAACAATGGTTTCATTAGGAGTGAAAAACCCACTACTAGATTTAACAGCTTTGGAAGATAAACCATTAGATGAGGGCTATGGCATTTCCTCTGTGCCATCTGCTTCCAATTCTAAATCCATAAAAGAGAATAGTAATGCTGCCATCATCAAGAGATTTAACCATCACAGTGCCATGGTCCTGGCAGCTGGACTCAGAAAACAAGAAGCACAAAATGAACAAACTAGTGAGCCCAGCAACATGGATGGAAATTCCGGAGATGCAGACTGCTTTCAGCCAGCAGTCAAAAGGGCGAAATTACAAGAGTCCATTGAATATGAAGACTTGGGGAAAAATAATTCTGTAAAAACGATTGCACTAAACCTCAAGAAGTCAGATAGGTATTATCATGGTCCAACTCCAATCCAGTCACTACAGTATGCAACAAGTCAGGACATTATTAATTCTTTTCAAAGTATTAGACAAGAAATGGAAGCTTATACACCCAAGTTAACTCAGGTTCTCTCAAGTAGTGCTGCCAGTAGTACCATCACAGCACTGTCACCTGGAGGGGCACTTATGCAGGGAGGAACACAGCAAGCCATAAACCAGATGGTGCCAAATGATATTCAATCTGAATTGAAACACTTATATGTAGCTGTTGGAGAACTTCTACGACATTTCTGGTCCTGCTTTCCTGTTAATACGCCATTCCTAGAAGAAAAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATTTGGTAAGTCACATAGAAGAGATGCTCCAGACAGCCTACAACAAGCTCCACACATGGCAGTCACGGCGTCTGATGAAGAAAACGTGA
Amino sequence
MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTISHMYADIKCQKISPEGKAKIQLQLVLHAGDTTNFHFSNESTAVKERDAVKDLLQQLLPKFKRKANKELEEKNRMLQEDPVLFQLYKDLVVSQVISAEEFWANRLNVNATDSSSTSNHKQDVGISAAFLADVRPQTDGCNGLRYNLTSDIIESIFRTYPAVKMKYAENVPHNMTEKEFWTRFFQSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKPLDEGYGISSVPSASNSKSIKENSNAAIIKRFNHHSAMVLAAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRAKLQESIEYEDLGKNNSVKTIALNLKKSDRYYHGPTPIQSLQYATSQDIINSFQSIRQEMEAYTPKLTQVLSSSAASSTITALSPGGALMQGGTQQAINQMVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPFQEKIRRQYLSTNLVSHIEEMLQTAYNKLHTWQSRRLMKKT*