ENST00000254325.9 RFX1

Information
Transcript ID
ENST00000254325.9
Genome
hg19
Position
chr19:14,072,342-14,117,132
Strand
-
CDS length
2,940
Amino acid length
980
Gene symbol
RFX1
Gene type
protein-coding
Gene description
regulatory factor X1
Gene Entrez Gene ID
5989
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
Search Word
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
21 14,072,342 14,073,676
20 14,073,806 14,073,851
19 14,073,934 14,074,087
18 14,074,350 14,074,558
17 14,074,670 14,074,819
16 14,076,261 14,076,358
15 14,076,438 14,076,589
14 14,077,233 14,077,342
13 14,077,445 14,077,563
12 14,079,377 14,079,492
11 14,079,587 14,079,706
10 14,080,806 14,080,987
9 14,083,555 14,083,939
8 14,088,804 14,088,898
7 14,090,259 14,090,354
6 14,091,385 14,091,501
5 14,092,933 14,093,040
4 14,093,999 14,094,082
3 14,094,298 14,094,407
2 14,104,337 14,104,707
1 14,116,915 14,117,132
CDS
Exon number Type Start Stop
21 CDS 14,073,507 14,073,676
20 CDS 14,073,806 14,073,851
19 CDS 14,073,934 14,074,087
18 CDS 14,074,350 14,074,558
17 CDS 14,074,670 14,074,819
16 CDS 14,076,261 14,076,358
15 CDS 14,076,438 14,076,589
14 CDS 14,077,233 14,077,342
13 CDS 14,077,445 14,077,563
12 CDS 14,079,377 14,079,492
11 CDS 14,079,587 14,079,706
10 CDS 14,080,806 14,080,987
9 CDS 14,083,555 14,083,939
8 CDS 14,088,804 14,088,898
7 CDS 14,090,259 14,090,354
6 CDS 14,091,385 14,091,501
5 CDS 14,092,933 14,093,040
4 CDS 14,093,999 14,094,082
3 CDS 14,094,298 14,094,407
2 CDS 14,104,337 14,104,655
Other genome
Genome Chromosome Start End Links
hg38 chr19 13,961,530 14,006,320 Link
CDS sequence
ATGGCAACACAGGCGTATACTGAGCTACAGGCAGCCCCGCCACCATCCCAGCCGCCACAGGCCCCGCCACAAGCCCAGCCCCAGCCGCCACCGCCACCACCCCCAGCGGCACCCCAGCCCCCGCAGCCACCCACCGCTGCTGCCACCCCTCAGCCCCAATATGTCACCGAGCTGCAGAGCCCCCAGCCCCAGGCACAGCCACCGGGTGGCCAGAAGCAGTACGTGACGGAGCTCCCGGCTGTACCCGCACCCTCGCAGCCAACCGGTGCACCCACCCCTTCGCCTGCACCCCAGCAGTACATCGTGGTCACTGTCTCTGAAGGTGCCATGCGGGCCAGCGAGACAGTGTCGGAGGCCAGCCCCGGCTCCACCGCCAGCCAGACCGGCGTTCCTACTCAGGTGGTTCAGCAGGTGCAGGGCACCCAGCAGCGGCTGCTGGTCCAGACGAGCGTGCAGGCCAAGCCAGGCCACGTGTCGCCCCTCCAGCTGACCAACATCCAAGTGCCCCAGCAGGCTCTTCCCACGCAGCGTCTGGTGGTGCAGAGCGCAGCCCCAGGCAGCAAAGGTGGCCAGGTCTCCCTGACGGTCCATGGTACCCAGCAGGTGCACTCGCCCCCAGAGCAGTCGCCGGTGCAGGCCAACAGCTCTTCCAGCAAGACAGCCGGGGCCCCCACGGGCACAGTGCCACAGCAGCTGCAGGTCCACGGCGTCCAGCAGAGTGTCCCCGTCACCCAAGAGAGATCTGTGGTCCAGGCCACTCCACAAGCGCCCAAACCCGGCCCGGTGCAGCCGCTGACCGTGCAGGGCCTCCAGCCAGTCCACGTGGCTCAAGAGGTGCAGCAGCTCCAGCAGGTGCCCGTCCCACACGTGTACTCCAGCCAGGTGCAGTATGTGGAGGGCGGCGATGCCAGCTACACGGCCAGTGCCATCCGTTCCAGCACCTACTCCTATCCCGAGACGCCGCTGTACACGCAGACGGCAAGCACCAGCTACTACGAGGCCGCAGGCACGGCCACCCAGGTCAGCACCCCCGCCACCTCCCAGGCGGTGGCCAGCAGTGGCTCCATGCCCATGTACGTGTCCGGCAGCCAGGTCGTCGCCAGCTCCACCAGCACTGGGGCTGGGGCCAGCAACAGCAGCGGAGGTGGTGGCAGTGGTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGGCAGCACCGGAGGCGGCGGCAGCGGAGCAGGCACCTACGTGATCCAAGGCGGCTACATGCTGGGCAGTGCCAGCCAGTCTTACTCTCACACCACCCGTGCCTCGCCAGCCACGGTCCAGTGGCTCCTGGACAACTATGAGACGGCTGAGGGCGTGAGTCTGCCACGGAGCACCCTCTACTGCCACTACTTACTGCACTGCCAGGAGCAGAAGCTGGAGCCCGTCAACGCCGCCTCCTTCGGCAAGCTCATCCGCTCCGTCTTCATGGGCCTGCGAACCCGCCGTCTGGGCACCAGGGGCAACTCCAAGTACCACTACTATGGCCTGCGCATCAAGGCCAGCTCACCCCTGCTGCGGCTGATGGAGGACCAGCAGCACATGGCCATGCGGGGCCAGCCCTTCTCGCAGAAGCAGAGGCTCAAGCCCATCCAGAAGATGGAAGGCATGACCAACGGCGTGGCGGTGGGGCAGCAGCCGAGCACGGGGCTGTCGGACATCAGCGCCCAGGTGCAGCAGTACCAGCAATTTTTGGATGCCTCTCGGAGCCTCCCTGACTTCACAGAGCTCGACCTCCAGGGCAAGGTGCTGCCTGAGGGCGTCGGGCCCGGGGACATCAAAGCCTTCCAGGTCCTGTACCGGGAACACTGTGAGGCCATTGTCGACGTCATGGTGAACCTGCAGTTCACCCTGGTGGAGACGCTGTGGAAGACCTTCTGGAGGTACAACCTCAGCCAGCCCAGTGAGGCGCCACCGCTGGCTGTACATGACGAGGCCGAGAAGCGACTGCCCAAAGCCATCCTGGTGCTCCTCTCCAAGTTCGAGCCCGTGCTCCAATGGACCAAGCACTGTGACAACGTGCTGTACCAGGGCCTGGTGGAAATCCTCATTCCCGACGTGCTGCGGCCCATCCCCAGTGCCTTGACCCAAGCGATCCGGAACTTTGCCAAGAGCCTGGAGAGCTGGCTCACCCACGCCATGGTCAACATCCCCGAGGAGATGCTGCGGGTGAAGGTGGCCGCGGCTGGCGCCTTCGCGCAGACACTGCGGCGCTACACGTCGCTCAACCACCTGGCGCAGGCGGCGCGCGCTGTGCTGCAGAACACCGCACAGATCAACCAGATGCTGAGCGACCTCAACCGCGTGGACTTCGCCAACGTGCAGGAGCAGGCCTCGTGGGTGTGCCGCTGCGAGGACCGCGTGGTGCAGCGGCTGGAGCAGGACTTCAAGGTGACGCTGCAGCAGCAGAACTCGCTGGAGCAGTGGGCGGCCTGGCTGGACGGCGTGGTGAGCCAGGTGCTCAAGCCCTACCAGGGCAGCGCCGGCTTCCCCAAGGCCGCCAAGCTCTTCCTCCTCAAGTGGTCCTTCTACAGCTCCATGGTGATCCGGGACCTGACCCTGCGCAGCGCCGCCAGCTTCGGTTCCTTCCACCTCATCCGGCTGCTCTACGACGAGTACATGTACTACCTGATCGAGCACCGCGTAGCCCAGGCCAAGGGCGAGACCCCCATCGCCGTCATGGGCGAGTTCGCCAATCTGGCCACCTCCCTGAACCCCCTGGACCCCGACAAAGACGAGGAGGAAGAAGAGGAGGAGGAGAGCGAGGACGAGCTGCCGCAGGACATCTCACTGGCGGCTGGCGGCGAGTCACCCGCGCTGGGCCCGGAGACCCTGGAGCCGCCGGCCAAGCTGGCGCGGACTGACGCGCGCGGCCTCTTCGTGCAGGCGCTGCCCTCCAGCTAA
Amino sequence
MATQAYTELQAAPPPSQPPQAPPQAQPQPPPPPPPAAPQPPQPPTAAATPQPQYVTELQSPQPQAQPPGGQKQYVTELPAVPAPSQPTGAPTPSPAPQQYIVVTVSEGAMRASETVSEASPGSTASQTGVPTQVVQQVQGTQQRLLVQTSVQAKPGHVSPLQLTNIQVPQQALPTQRLVVQSAAPGSKGGQVSLTVHGTQQVHSPPEQSPVQANSSSSKTAGAPTGTVPQQLQVHGVQQSVPVTQERSVVQATPQAPKPGPVQPLTVQGLQPVHVAQEVQQLQQVPVPHVYSSQVQYVEGGDASYTASAIRSSTYSYPETPLYTQTASTSYYEAAGTATQVSTPATSQAVASSGSMPMYVSGSQVVASSTSTGAGASNSSGGGGSGGGGGGGGGGGGGGSGSTGGGGSGAGTYVIQGGYMLGSASQSYSHTTRASPATVQWLLDNYETAEGVSLPRSTLYCHYLLHCQEQKLEPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGLRIKASSPLLRLMEDQQHMAMRGQPFSQKQRLKPIQKMEGMTNGVAVGQQPSTGLSDISAQVQQYQQFLDASRSLPDFTELDLQGKVLPEGVGPGDIKAFQVLYREHCEAIVDVMVNLQFTLVETLWKTFWRYNLSQPSEAPPLAVHDEAEKRLPKAILVLLSKFEPVLQWTKHCDNVLYQGLVEILIPDVLRPIPSALTQAIRNFAKSLESWLTHAMVNIPEEMLRVKVAAAGAFAQTLRRYTSLNHLAQAARAVLQNTAQINQMLSDLNRVDFANVQEQASWVCRCEDRVVQRLEQDFKVTLQQQNSLEQWAAWLDGVVSQVLKPYQGSAGFPKAAKLFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMYYLIEHRVAQAKGETPIAVMGEFANLATSLNPLDPDKDEEEEEEEESEDELPQDISLAAGGESPALGPETLEPPAKLARTDARGLFVQALPSS*