ENST00000453096.6 GTF2H1

Information
Transcript ID
ENST00000453096.6
Genome
hg19
Position
chr11:18,343,842-18,387,808
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

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
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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
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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 18,343,842 18,344,287
2 18,347,494 18,347,700
3 18,354,607 18,354,775
4 18,357,301 18,357,493
5 18,359,656 18,359,821
6 18,361,111 18,361,204
7 18,362,808 18,362,957
8 18,363,075 18,363,154
9 18,369,135 18,369,262
10 18,369,379 18,369,466
11 18,373,428 18,373,516
12 18,373,876 18,373,993
13 18,379,499 18,379,589
14 18,380,072 18,380,187
15 18,382,162 18,382,254
16 18,387,330 18,387,808
CDS
Exon number Type Start Stop
3 CDS 18,354,622 18,354,775
4 CDS 18,357,301 18,357,493
5 CDS 18,359,656 18,359,821
6 CDS 18,361,111 18,361,204
7 CDS 18,362,808 18,362,957
8 CDS 18,363,075 18,363,154
9 CDS 18,369,135 18,369,262
10 CDS 18,369,379 18,369,466
11 CDS 18,373,428 18,373,516
12 CDS 18,373,876 18,373,993
13 CDS 18,379,499 18,379,589
14 CDS 18,380,072 18,380,187
15 CDS 18,382,162 18,382,254
16 CDS 18,387,330 18,387,416
Other genome
Genome Chromosome Start End Links
hg38 chr11 18,322,295 18,366,261 Link
CDS sequence
ATGGCAACCTCATCTGAAGAAGTTTTGCTGATTGTAAAGAAAGTGCGTCAAAAGAAGCAGGATGGAGCTCTGTACCTCATGGCAGAAAGAATTGCTTGGGCACCTGAAGGCAAAGATAGATTTACAATCAGCCATATGTATGCAGATATTAAATGCCAGAAAATTAGTCCAGAAGGAAAAGCTAAAATTCAGCTTCAGCTGGTCCTACATGCAGGGGACACAACTAACTTCCATTTTTCCAATGAAAGCACAGCAGTGAAAGAGCGAGATGCAGTAAAAGACCTTCTTCAGCAGCTGCTGCCCAAATTCAAGAGGAAAGCAAATAAAGAACTGGAAGAGAAGAACAGAATGCTGCAAGAAGATCCTGTTTTGTTTCAGCTTTATAAAGACCTTGTTGTGAGTCAAGTGATCAGTGCTGAGGAATTCTGGGCCAATCGTTTAAATGTGAATGCAACAGATAGTTCTTCCACATCCAATCATAAGCAGGATGTTGGCATTTCTGCTGCATTTCTGGCTGATGTCCGGCCCCAAACTGATGGCTGTAACGGTCTAAGATATAATTTAACTTCTGATATCATTGAGTCCATATTTAGGACCTATCCAGCAGTAAAAATGAAATATGCAGAAAATGTTCCCCACAACATGACAGAGAAGGAATTCTGGACACGTTTTTTCCAGTCCCATTATTTTCACAGGGATCGGCTGAATACAGGGTCAAAGGATCTCTTTGCAGAATGTGCCAAAATAGATGAAAAAGGCCTAAAAACAATGGTTTCATTAGGAGTGAAAAACCCACTACTAGATTTAACAGCTTTGGAAGATAAACCATTAGATGAGGGCTATGGCATTTCCTCTGTGCCATCTGCTTCCAATTCTAAATCCATAAAAGAGAATAGTAATGCTGCCATCATCAAGAGATTTAACCATCACAGTGCCATGGTCCTGGCAGCTGGACTCAGAAAACAAGAAGCACAAAATGAACAAACTAGTGAGCCCAGCAACATGGATGGAAATTCCGGAGATGCAGACTGCTTTCAGCCAGCAGTCAAAAGGGCGAAATTACAAGAGTCCATTGAATATGAAGACTTGGGGAAAAATAATTCTGTAAAAACGATTGCACTAAACCTCAAGAAGTCAGATAGGTATTATCATGGTCCAACTCCAATCCAGTCACTACAGTATGCAACAAGTCAGGACATTATTAATTCTTTTCAAAGTATTAGACAAGAAATGGAAGCTTATACACCCAAGTTAACTCAGGTTCTCTCAAGTAGTGCTGCCAGTAGTACCATCACAGCACTGTCACCTGGAGGGGCACTTATGCAGGGAGGAACACAGCAAGCCATAAACCAGATGGTGCCAAATGATATTCAATCTGAATTGAAACACTTATATGTAGCTGTTGGAGAACTTCTACGACATTTCTGGTCCTGCTTTCCTGTTAATACGCCATTCCTAGAAGAAAAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATTTGGTAAGTCACATAGAAGAGATGCTCCAGACAGCCTACAACAAGCTCCACACATGGCAGTCACGGCGTCTGATGAAGAAAACGTGA
Amino sequence
MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTISHMYADIKCQKISPEGKAKIQLQLVLHAGDTTNFHFSNESTAVKERDAVKDLLQQLLPKFKRKANKELEEKNRMLQEDPVLFQLYKDLVVSQVISAEEFWANRLNVNATDSSSTSNHKQDVGISAAFLADVRPQTDGCNGLRYNLTSDIIESIFRTYPAVKMKYAENVPHNMTEKEFWTRFFQSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKPLDEGYGISSVPSASNSKSIKENSNAAIIKRFNHHSAMVLAAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRAKLQESIEYEDLGKNNSVKTIALNLKKSDRYYHGPTPIQSLQYATSQDIINSFQSIRQEMEAYTPKLTQVLSSSAASSTITALSPGGALMQGGTQQAINQMVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPFQEKIRRQYLSTNLVSHIEEMLQTAYNKLHTWQSRRLMKKT*