ENST00000254325.9 RFX1

Information
Transcript ID
ENST00000254325.9
Genome
hg38
Position
chr19:13,961,530-14,006,320
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
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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
21 13,961,530 13,962,864
20 13,962,994 13,963,039
19 13,963,122 13,963,275
18 13,963,538 13,963,746
17 13,963,858 13,964,007
16 13,965,449 13,965,546
15 13,965,626 13,965,777
14 13,966,421 13,966,530
13 13,966,633 13,966,751
12 13,968,565 13,968,680
11 13,968,775 13,968,894
10 13,969,994 13,970,175
9 13,972,743 13,973,127
8 13,977,992 13,978,086
7 13,979,447 13,979,542
6 13,980,573 13,980,689
5 13,982,121 13,982,228
4 13,983,187 13,983,270
3 13,983,486 13,983,595
2 13,993,525 13,993,895
1 14,006,103 14,006,320
CDS
Exon number Type Start Stop
21 CDS 13,962,695 13,962,864
20 CDS 13,962,994 13,963,039
19 CDS 13,963,122 13,963,275
18 CDS 13,963,538 13,963,746
17 CDS 13,963,858 13,964,007
16 CDS 13,965,449 13,965,546
15 CDS 13,965,626 13,965,777
14 CDS 13,966,421 13,966,530
13 CDS 13,966,633 13,966,751
12 CDS 13,968,565 13,968,680
11 CDS 13,968,775 13,968,894
10 CDS 13,969,994 13,970,175
9 CDS 13,972,743 13,973,127
8 CDS 13,977,992 13,978,086
7 CDS 13,979,447 13,979,542
6 CDS 13,980,573 13,980,689
5 CDS 13,982,121 13,982,228
4 CDS 13,983,187 13,983,270
3 CDS 13,983,486 13,983,595
2 CDS 13,993,525 13,993,843
Other genome
Genome Chromosome Start End Links
hg19 chr19 14,072,342 14,117,132 Link
CDS sequence
ATGGCAACACAGGCGTATACTGAGCTACAGGCAGCCCCGCCACCATCCCAGCCGCCACAGGCCCCGCCACAAGCCCAGCCCCAGCCGCCACCGCCACCACCCCCAGCGGCACCCCAGCCCCCGCAGCCACCCACCGCTGCTGCCACCCCTCAGCCCCAATATGTCACCGAGCTGCAGAGCCCCCAGCCCCAGGCACAGCCACCGGGTGGCCAGAAGCAGTACGTGACGGAGCTCCCGGCTGTACCCGCACCCTCGCAGCCAACCGGTGCACCCACCCCTTCGCCTGCACCCCAGCAGTACATCGTGGTCACTGTCTCTGAAGGTGCCATGCGGGCCAGCGAGACAGTGTCGGAGGCCAGCCCCGGCTCCACCGCCAGCCAGACCGGCGTTCCTACTCAGGTGGTTCAGCAGGTGCAGGGCACCCAGCAGCGGCTGCTGGTCCAGACGAGCGTGCAGGCCAAGCCAGGCCACGTGTCGCCCCTCCAGCTGACCAACATCCAAGTGCCCCAGCAGGCTCTTCCCACGCAGCGTCTGGTGGTGCAGAGCGCAGCCCCAGGCAGCAAAGGTGGCCAGGTCTCCCTGACGGTCCATGGTACCCAGCAGGTGCACTCGCCCCCAGAGCAGTCGCCGGTGCAGGCCAACAGCTCTTCCAGCAAGACAGCCGGGGCCCCCACGGGCACAGTGCCACAGCAGCTGCAGGTCCACGGCGTCCAGCAGAGTGTCCCCGTCACCCAAGAGAGATCTGTGGTCCAGGCCACTCCACAAGCGCCCAAACCCGGCCCGGTGCAGCCGCTGACCGTGCAGGGCCTCCAGCCAGTCCACGTGGCTCAAGAGGTGCAGCAGCTCCAGCAGGTGCCCGTCCCACACGTGTACTCCAGCCAGGTGCAGTATGTGGAGGGCGGCGATGCCAGCTACACGGCCAGTGCCATCCGTTCCAGCACCTACTCCTATCCCGAGACGCCGCTGTACACGCAGACGGCAAGCACCAGCTACTACGAGGCCGCAGGCACGGCCACCCAGGTCAGCACCCCCGCCACCTCCCAGGCGGTGGCCAGCAGTGGCTCCATGCCCATGTACGTGTCCGGCAGCCAGGTCGTCGCCAGCTCCACCAGCACTGGGGCTGGGGCCAGCAACAGCAGCGGAGGTGGTGGCAGTGGTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGGCAGCACCGGAGGCGGCGGCAGCGGAGCAGGCACCTACGTGATCCAAGGCGGCTACATGCTGGGCAGTGCCAGCCAGTCTTACTCTCACACCACCCGTGCCTCGCCAGCCACGGTCCAGTGGCTCCTGGACAACTATGAGACGGCTGAGGGCGTGAGTCTGCCACGGAGCACCCTCTACTGCCACTACTTACTGCACTGCCAGGAGCAGAAGCTGGAGCCCGTCAACGCCGCCTCCTTCGGCAAGCTCATCCGCTCCGTCTTCATGGGCCTGCGAACCCGCCGTCTGGGCACCAGGGGCAACTCCAAGTACCACTACTATGGCCTGCGCATCAAGGCCAGCTCACCCCTGCTGCGGCTGATGGAGGACCAGCAGCACATGGCCATGCGGGGCCAGCCCTTCTCGCAGAAGCAGAGGCTCAAGCCCATCCAGAAGATGGAAGGCATGACCAACGGCGTGGCGGTGGGGCAGCAGCCGAGCACGGGGCTGTCGGACATCAGCGCCCAGGTGCAGCAGTACCAGCAATTTTTGGATGCCTCTCGGAGCCTCCCTGACTTCACAGAGCTCGACCTCCAGGGCAAGGTGCTGCCTGAGGGCGTCGGGCCCGGGGACATCAAAGCCTTCCAGGTCCTGTACCGGGAACACTGTGAGGCCATTGTCGACGTCATGGTGAACCTGCAGTTCACCCTGGTGGAGACGCTGTGGAAGACCTTCTGGAGGTACAACCTCAGCCAGCCCAGTGAGGCGCCACCGCTGGCTGTACATGACGAGGCCGAGAAGCGACTGCCCAAAGCCATCCTGGTGCTCCTCTCCAAGTTCGAGCCCGTGCTCCAATGGACCAAGCACTGTGACAACGTGCTGTACCAGGGCCTGGTGGAAATCCTCATTCCCGACGTGCTGCGGCCCATCCCCAGTGCCTTGACCCAAGCGATCCGGAACTTTGCCAAGAGCCTGGAGAGCTGGCTCACCCACGCCATGGTCAACATCCCCGAGGAGATGCTGCGGGTGAAGGTGGCCGCGGCTGGCGCCTTCGCGCAGACACTGCGGCGCTACACGTCGCTCAACCACCTGGCGCAGGCGGCGCGCGCTGTGCTGCAGAACACCGCACAGATCAACCAGATGCTGAGCGACCTCAACCGCGTGGACTTCGCCAACGTGCAGGAGCAGGCCTCGTGGGTGTGCCGCTGCGAGGACCGCGTGGTGCAGCGGCTGGAGCAGGACTTCAAGGTGACGCTGCAGCAGCAGAACTCGCTGGAGCAGTGGGCGGCCTGGCTGGACGGCGTGGTGAGCCAGGTGCTCAAGCCCTACCAGGGCAGCGCCGGCTTCCCCAAGGCCGCCAAGCTCTTCCTCCTCAAGTGGTCCTTCTACAGCTCCATGGTGATCCGGGACCTGACCCTGCGCAGCGCCGCCAGCTTCGGTTCCTTCCACCTCATCCGGCTGCTCTACGACGAGTACATGTACTACCTGATCGAGCACCGCGTAGCCCAGGCCAAGGGCGAGACCCCCATCGCCGTCATGGGCGAGTTCGCCAATCTGGCCACCTCCCTGAACCCCCTGGACCCCGACAAAGACGAGGAGGAAGAAGAGGAGGAGGAGAGCGAGGACGAGCTGCCGCAGGACATCTCACTGGCGGCTGGCGGCGAGTCACCCGCGCTGGGCCCGGAGACCCTGGAGCCGCCGGCCAAGCTGGCGCGGACTGACGCGCGCGGCCTCTTCGTGCAGGCGCTGCCCTCCAGCTAA
Amino sequence
MATQAYTELQAAPPPSQPPQAPPQAQPQPPPPPPPAAPQPPQPPTAAATPQPQYVTELQSPQPQAQPPGGQKQYVTELPAVPAPSQPTGAPTPSPAPQQYIVVTVSEGAMRASETVSEASPGSTASQTGVPTQVVQQVQGTQQRLLVQTSVQAKPGHVSPLQLTNIQVPQQALPTQRLVVQSAAPGSKGGQVSLTVHGTQQVHSPPEQSPVQANSSSSKTAGAPTGTVPQQLQVHGVQQSVPVTQERSVVQATPQAPKPGPVQPLTVQGLQPVHVAQEVQQLQQVPVPHVYSSQVQYVEGGDASYTASAIRSSTYSYPETPLYTQTASTSYYEAAGTATQVSTPATSQAVASSGSMPMYVSGSQVVASSTSTGAGASNSSGGGGSGGGGGGGGGGGGGGSGSTGGGGSGAGTYVIQGGYMLGSASQSYSHTTRASPATVQWLLDNYETAEGVSLPRSTLYCHYLLHCQEQKLEPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGLRIKASSPLLRLMEDQQHMAMRGQPFSQKQRLKPIQKMEGMTNGVAVGQQPSTGLSDISAQVQQYQQFLDASRSLPDFTELDLQGKVLPEGVGPGDIKAFQVLYREHCEAIVDVMVNLQFTLVETLWKTFWRYNLSQPSEAPPLAVHDEAEKRLPKAILVLLSKFEPVLQWTKHCDNVLYQGLVEILIPDVLRPIPSALTQAIRNFAKSLESWLTHAMVNIPEEMLRVKVAAAGAFAQTLRRYTSLNHLAQAARAVLQNTAQINQMLSDLNRVDFANVQEQASWVCRCEDRVVQRLEQDFKVTLQQQNSLEQWAAWLDGVVSQVLKPYQGSAGFPKAAKLFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMYYLIEHRVAQAKGETPIAVMGEFANLATSLNPLDPDKDEEEEEEEESEDELPQDISLAAGGESPALGPETLEPPAKLARTDARGLFVQALPSS*