ENST00000592546.5 RFX2

Information
Transcript ID
ENST00000592546.5
Genome
hg19
Position
chr19:5,994,513-6,110,543
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
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
17 5,994,513 5,994,961
16 5,995,612 5,995,654
15 5,997,071 5,997,224
14 6,001,826 6,002,034
13 6,002,732 6,002,881
12 6,004,212 6,004,309
11 6,007,023 6,007,177
10 6,007,701 6,007,813
9 6,008,117 6,008,235
8 6,010,147 6,010,262
7 6,012,997 6,013,116
6 6,016,101 6,016,282
5 6,039,991 6,040,252
4 6,042,055 6,042,134
3 6,044,204 6,044,293
2 6,047,418 6,047,515
1 6,110,404 6,110,543
CDS
Exon number Type Start Stop
17 CDS 5,994,846 5,994,961
16 CDS 5,995,612 5,995,654
15 CDS 5,997,071 5,997,224
14 CDS 6,001,826 6,002,034
13 CDS 6,002,732 6,002,881
12 CDS 6,004,212 6,004,309
11 CDS 6,007,023 6,007,177
10 CDS 6,007,701 6,007,813
9 CDS 6,008,117 6,008,235
8 CDS 6,010,147 6,010,262
7 CDS 6,012,997 6,013,116
6 CDS 6,016,101 6,016,282
5 CDS 6,039,991 6,040,252
4 CDS 6,042,055 6,042,134
3 CDS 6,044,204 6,044,293
2 CDS 6,047,418 6,047,507
Other genome
Genome Chromosome Start End Links
hg38 chr19 5,994,502 6,110,532 Link
CDS sequence
ATGCAGAATTCCGAGGGTGGAGCGGATTCGCCAGCGTCCGTGGCTCTGCGTCCCTCGGCGGCAGCCCCGCCTGTGCCAGCCTCCCCGCAGAGGGTGTTGGTCCAGGCAGCCAGCTCCAATCCCAAAGGGGCCCAGATGCAGCCGATCTCCCTCCCCAGAGTTCAGCAGGTACCCCAGCAGGTGCAGCCGGTGCAGCACGTGTATCCTGCCCAGGTGCAGTACGTGGAAGGGGGAGACGCCGTCTACACCAATGGAGCCATACGAACAGCCTACACCTACAACCCCGAGCCTCAGATGTACGCCCCCAGCAGCACGGCTTCTTACTTCGAGGCCCCAGGCGGTGCCCAGGTGACCGTGGCAGCCTCGTCCCCGCCAGCGGTCCCCTCCCACAGCATGGTGGGCATCACCATGGATGTCGGGGGGAGCCCCATCGTCTCCAGCGCGGGAGCCTATCTCATCCACGGGGGGATGGACAGCACCAGACACTCCCTGGCCCACACCTCCCGCTCATCGCCCGCCACGCTCCAGTGGCTGTTGGATAATTATGAAACAGCGGAAGGTGTGAGTCTCCCCAGAAGTTCTCTTTACAACCACTACCTTCGGCACTGCCAGGAGCACAAGCTAGACCCAGTGAACGCCGCCTCCTTCGGGAAACTGATCCGTTCTGTGTTTATGGGGCTGAGAACGCGGCGGCTGGGCACCAGGGGCAACTCGAAGTACCATTACTATGGGATTCGTCTGAAGCCGGACTCACCACTGAACCGGCTGCAGGAGGACACGCAGTACATGGCCATGCGGCAGCAGCCCATGCACCAGAAGCCCAGGTACCGGCCAGCCCAGAAGACGGACAGCCTCGGGGACAGCGGCTCCCACAGCGGCCTGCACAGCACTCCGGAACAGACCATGGCCGTGCAGAGCCAGCACCACCAGCAGTACATAGATGTCTCCCACGTCTTCCCCGAGTTCCCAGCGCCCGACCTGGGCAGCTTCCTGCTGCAGGACGGCGTCACACTGCACGACGTCAAGGCCCTGCAGCTGGTGTACAGACGGCACTGCGAGGCAACTGTAGATGTGGTGATGAACCTCCAGTTCCACTACATCGAGAAGCTGTGGCTCTCCTTCTGGAACTCTAAGGCCTCCTCCAGCGACGGCCCCACCTCTCTTCCTGCCAGTGACGAAGACCCCGAGGGCGCCGTCCTGCCCAAGGACAAGCTTATCTCCCTGTGTCAGTGCGACCCCATCCTCAGGTGGATGAGGAGCTGCGACCACATCCTCTACCAGGCGCTGGTGGAGATTCTCATCCCCGACGTGCTGAGGCCGGTCCCCAGTACCTTGACACAGGCCATCCGTAACTTTGCCAAGAGCTTGGAAGGCTGGTTGACAAATGCCATGAGTGACTTCCCACAACAGGTCATCCAGACCAAGGTGGGCGTCGTCAGTGCCTTCGCCCAGACGCTGCGGCGCTACACGTCCCTCAACCACCTGGCGCAGGCGGCCCGGGCGGTGCTGCAGAACACGTCCCAGATCAACCAGATGCTCAGCGACCTCAACCGCGTGGACTTTGCCAACGTGCAGGAGCAGGCCTCGTGGGTGTGCCAGTGCGAGGAGAGTGTGGTGCAGCGGCTGGAGCAGGATTTCAAGCTGACCCTGCAGCAGCAGAGCTCCCTGGACCAGTGGGCCAGCTGGCTGGACAGTGTGGTCACCCAGGTCCTGAAGCAGCATGCCGGCAGCCCCAGCTTCCCCAAGGCCGCCCGGCAGTTCTTGCTGAAATGGTCCTTTTACAGCTCCATGGTGATCCGGGACCTGACCCTGCGCAGCGCTGCCAGCTTCGGCTCCTTCCACCTCATCCGCCTGCTCTACGACGAGTACATGTTCTACCTGGTGGAGCACCGCGTCGCGGAGGCCACCGGAGAGACGCCGATCGCTGTGATGGGAGAGTTCAACGATCTCGCCTCTCTGTCGCTGACGCTGCTCGACAAAGATGACATGGGCGATGAGCAGCGTGGCAGCGAGGCGGGCCCAGACGCCCGCAGCCTGGGTGAGCCCCTGGTAAAGCGGGAGCGCAGTGACCCCAACCACTCCCTGCAGGGCATCTAG
Amino sequence
MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSSTASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLQWLLDNYETAEGVSLPRSSLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRLQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDPEGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCEESVVQRLEQDFKLTLQQQSSLDQWASWLDSVVTQVLKQHAGSPSFPKAARQFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAEATGETPIAVMGEFNDLASLSLTLLDKDDMGDEQRGSEAGPDARSLGEPLVKRERSDPNHSLQGI*