ENST00000376316.5 GTF2H4

Information
Transcript ID
ENST00000376316.5
Genome
hg19
Position
chr6:30,875,998-30,881,883
Strand
+
CDS length
1,389
Amino acid length
463
Gene symbol
GTF2H4
Gene type
protein-coding
Gene description
general transcription factor IIH subunit 4
Gene Entrez Gene ID
2968
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
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 30,875,998 30,876,155
2 30,876,811 30,876,950
3 30,877,212 30,877,316
4 30,877,709 30,877,840
5 30,878,442 30,878,538
6 30,878,630 30,878,718
7 30,878,935 30,879,046
8 30,879,208 30,879,276
9 30,879,461 30,879,544
10 30,879,791 30,879,923
11 30,880,105 30,880,235
12 30,880,887 30,880,934
13 30,881,086 30,881,164
14 30,881,588 30,881,883
CDS
Exon number Type Start Stop
2 CDS 30,876,814 30,876,950
3 CDS 30,877,212 30,877,316
4 CDS 30,877,709 30,877,840
5 CDS 30,878,442 30,878,538
6 CDS 30,878,630 30,878,718
7 CDS 30,878,935 30,879,046
8 CDS 30,879,208 30,879,276
9 CDS 30,879,461 30,879,544
10 CDS 30,879,791 30,879,923
11 CDS 30,880,105 30,880,235
12 CDS 30,880,887 30,880,934
13 CDS 30,881,086 30,881,164
14 CDS 30,881,588 30,881,760
Other genome
Genome Chromosome Start End Links
hg38 chr6 30,908,221 30,914,106 Link
CDS sequence
ATGGAGAGCACCCCTTCAAGGGGACTGAACCGAGTACACCTACAATGCAGGAATCTGCAGGAATTCTTAGGGGGCCTGAGCCCTGGGGTATTGGACCGATTGTATGGGCACCCTGCCACATGTCTGGCTGTCTTCAGGGAGCTCCCATCCTTGGCTAAGAACTGGGTGATGCGGATGCTCTTTCTGGAGCAGCCTTTGCCACAGGCTGCTGTAGCTCTGTGGGTAAAGAAGGAATTCAGCAAGGCTCAGGAGGAAAGTACAGGGCTGCTGAGCGGCCTCCGGATCTGGCACACACAGCTGCTCCCAGGCGGGCTCCAGGGCCTCATCCTCAACCCCATTTTCCGCCAGAACCTCCGCATTGCCCTTCTGGGTGGGGGGAAGGCCTGGTCTGATGACACAAGTCAGCTGGGACCAGACAAGCATGCCCGGGACGTTCCCTCCCTTGACAAGTACGCCGAGGAGCGATGGGAGGTGGTCTTGCACTTCATGGTGGGCTCCCCCAGTGCAGCTGTCAGCCAGGACTTGGCTCAGCTCCTCAGCCAGGCTGGGCTCATGAAGAGTACTGAACCTGGAGAGCCGCCCTGCATTACTTCCGCTGGCTTCCAGTTCCTGTTGCTGGACACCCCGGCTCAGCTCTGGTACTTTATGTTGCAGTATTTGCAGACAGCCCAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCTACTCTGGGCAAGGATTACTCTGTGGAAGGTATGAGTGATTCTCTGTTGAACTTCCTGCAACATCTGCGTGAGTTTGGGCTTGTTTTCCAGAGGAAGAGGAAATCTCGGCGTTACTACCCCACACGCCTGGCCATCAATCTCTCATCAGGTGTCTCTGGAGCTGGGGGCACTGTGCATCAGCCAGGTTTCATTGTCGTGGAAACCAATTACCGACTGTATGCCTACACGGAGTCGGAGCTGCAGATTGCCCTCATTGCCCTCTTCTCTGAGATGCTCTATCGGTTCCCCAACATGGTGGTGGCGCAGGTGACCCGGGAGAGTGTGCAGCAGGCAATCGCCAGTGGCATCACAGCCCAGCAGATAATCCATTTCCTAAGGACAAGAGCCCACCCAGTGATGCTCAAACAGACACCTGTGCTGCCCCCCACCATCACCGACCAGATCCGGCTCTGGGAGCTGGAAAGGGACAGACTCCGGTTCACTGAGGGTGTCCTGTATAACCAGTTCCTGTCGCAAGTGGACTTTGAGCTGCTGCTGGCCCACGCGCGGGAGCTGGGCGTGCTCGTGTTCGAGAACTCGGCCAAGCGGCTCATGGTGGTGACCCCGGCCGGGCACAGCGACGTCAAGCGCTTTTGGAAGCGGCAGAAACATAGCTCCTGA
Amino sequence
MESTPSRGLNRVHLQCRNLQEFLGGLSPGVLDRLYGHPATCLAVFRELPSLAKNWVMRMLFLEQPLPQAAVALWVKKEFSKAQEESTGLLSGLRIWHTQLLPGGLQGLILNPIFRQNLRIALLGGGKAWSDDTSQLGPDKHARDVPSLDKYAEERWEVVLHFMVGSPSAAVSQDLAQLLSQAGLMKSTEPGEPPCITSAGFQFLLLDTPAQLWYFMLQYLQTAQSRGMDLVEILSFLFQLSFSTLGKDYSVEGMSDSLLNFLQHLREFGLVFQRKRKSRRYYPTRLAINLSSGVSGAGGTVHQPGFIVVETNYRLYAYTESELQIALIALFSEMLYRFPNMVVAQVTRESVQQAIASGITAQQIIHFLRTRAHPVMLKQTPVLPPTITDQIRLWELERDRLRFTEGVLYNQFLSQVDFELLLAHARELGVLVFENSAKRLMVVTPAGHSDVKRFWKRQKHSS*