ENST00000592546.5 RFX2

Information
Transcript ID
ENST00000592546.5
Genome
hg38
Position
chr19:5,994,502-6,110,532
Strand
-
CDS length
2,097
Amino acid length
699
Gene symbol
RFX2
Gene type
protein-coding
Gene description
regulatory factor X2
Gene Entrez Gene ID
5990
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
17 5,994,502 5,994,950
16 5,995,601 5,995,643
15 5,997,060 5,997,213
14 6,001,815 6,002,023
13 6,002,721 6,002,870
12 6,004,201 6,004,298
11 6,007,012 6,007,166
10 6,007,690 6,007,802
9 6,008,106 6,008,224
8 6,010,136 6,010,251
7 6,012,986 6,013,105
6 6,016,090 6,016,271
5 6,039,980 6,040,241
4 6,042,044 6,042,123
3 6,044,193 6,044,282
2 6,047,407 6,047,504
1 6,110,393 6,110,532
CDS
Exon number Type Start Stop
17 CDS 5,994,835 5,994,950
16 CDS 5,995,601 5,995,643
15 CDS 5,997,060 5,997,213
14 CDS 6,001,815 6,002,023
13 CDS 6,002,721 6,002,870
12 CDS 6,004,201 6,004,298
11 CDS 6,007,012 6,007,166
10 CDS 6,007,690 6,007,802
9 CDS 6,008,106 6,008,224
8 CDS 6,010,136 6,010,251
7 CDS 6,012,986 6,013,105
6 CDS 6,016,090 6,016,271
5 CDS 6,039,980 6,040,241
4 CDS 6,042,044 6,042,123
3 CDS 6,044,193 6,044,282
2 CDS 6,047,407 6,047,496
Other genome
Genome Chromosome Start End Links
hg19 chr19 5,994,513 6,110,543 Link
CDS sequence
ATGCAGAATTCCGAGGGTGGAGCGGATTCGCCAGCGTCCGTGGCTCTGCGTCCCTCGGCGGCAGCCCCGCCTGTGCCAGCCTCCCCGCAGAGGGTGTTGGTCCAGGCAGCCAGCTCCAATCCCAAAGGGGCCCAGATGCAGCCGATCTCCCTCCCCAGAGTTCAGCAGGTACCCCAGCAGGTGCAGCCGGTGCAGCACGTGTATCCTGCCCAGGTGCAGTACGTGGAAGGGGGAGACGCCGTCTACACCAATGGAGCCATACGAACAGCCTACACCTACAACCCCGAGCCTCAGATGTACGCCCCCAGCAGCACGGCTTCTTACTTCGAGGCCCCAGGCGGTGCCCAGGTGACCGTGGCAGCCTCGTCCCCGCCAGCGGTCCCCTCCCACAGCATGGTGGGCATCACCATGGATGTCGGGGGGAGCCCCATCGTCTCCAGCGCGGGAGCCTATCTCATCCACGGGGGGATGGACAGCACCAGACACTCCCTGGCCCACACCTCCCGCTCATCGCCCGCCACGCTCCAGTGGCTGTTGGATAATTATGAAACAGCGGAAGGTGTGAGTCTCCCCAGAAGTTCTCTTTACAACCACTACCTTCGGCACTGCCAGGAGCACAAGCTAGACCCAGTGAACGCCGCCTCCTTCGGGAAACTGATCCGTTCTGTGTTTATGGGGCTGAGAACGCGGCGGCTGGGCACCAGGGGCAACTCGAAGTACCATTACTATGGGATTCGTCTGAAGCCGGACTCACCACTGAACCGGCTGCAGGAGGACACGCAGTACATGGCCATGCGGCAGCAGCCCATGCACCAGAAGCCCAGGTACCGGCCAGCCCAGAAGACGGACAGCCTCGGGGACAGCGGCTCCCACAGCGGCCTGCACAGCACTCCGGAACAGACCATGGCCGTGCAGAGCCAGCACCACCAGCAGTACATAGATGTCTCCCACGTCTTCCCCGAGTTCCCAGCGCCCGACCTGGGCAGCTTCCTGCTGCAGGACGGCGTCACACTGCACGACGTCAAGGCCCTGCAGCTGGTGTACAGACGGCACTGCGAGGCAACTGTAGATGTGGTGATGAACCTCCAGTTCCACTACATCGAGAAGCTGTGGCTCTCCTTCTGGAACTCTAAGGCCTCCTCCAGCGACGGCCCCACCTCTCTTCCTGCCAGTGACGAAGACCCCGAGGGCGCCGTCCTGCCCAAGGACAAGCTTATCTCCCTGTGTCAGTGCGACCCCATCCTCAGGTGGATGAGGAGCTGCGACCACATCCTCTACCAGGCGCTGGTGGAGATTCTCATCCCCGACGTGCTGAGGCCGGTCCCCAGTACCTTGACACAGGCCATCCGTAACTTTGCCAAGAGCTTGGAAGGCTGGTTGACAAATGCCATGAGTGACTTCCCACAACAGGTCATCCAGACCAAGGTGGGCGTCGTCAGTGCCTTCGCCCAGACGCTGCGGCGCTACACGTCCCTCAACCACCTGGCGCAGGCGGCCCGGGCGGTGCTGCAGAACACGTCCCAGATCAACCAGATGCTCAGCGACCTCAACCGCGTGGACTTTGCCAACGTGCAGGAGCAGGCCTCGTGGGTGTGCCAGTGCGAGGAGAGTGTGGTGCAGCGGCTGGAGCAGGATTTCAAGCTGACCCTGCAGCAGCAGAGCTCCCTGGACCAGTGGGCCAGCTGGCTGGACAGTGTGGTCACCCAGGTCCTGAAGCAGCATGCCGGCAGCCCCAGCTTCCCCAAGGCCGCCCGGCAGTTCTTGCTGAAATGGTCCTTTTACAGCTCCATGGTGATCCGGGACCTGACCCTGCGCAGCGCTGCCAGCTTCGGCTCCTTCCACCTCATCCGCCTGCTCTACGACGAGTACATGTTCTACCTGGTGGAGCACCGCGTCGCGGAGGCCACCGGAGAGACGCCGATCGCTGTGATGGGAGAGTTCAACGATCTCGCCTCTCTGTCGCTGACGCTGCTCGACAAAGATGACATGGGCGATGAGCAGCGTGGCAGCGAGGCGGGCCCAGACGCCCGCAGCCTGGGTGAGCCCCTGGTAAAGCGGGAGCGCAGTGACCCCAACCACTCCCTGCAGGGCATCTAG
Amino sequence
MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSSTASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLQWLLDNYETAEGVSLPRSSLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRLQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDPEGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCEESVVQRLEQDFKLTLQQQSSLDQWASWLDSVVTQVLKQHAGSPSFPKAARQFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAEATGETPIAVMGEFNDLASLSLTLLDKDDMGDEQRGSEAGPDARSLGEPLVKRERSDPNHSLQGI*