ENST00000549996.5 NR1H4

Information
Transcript ID
ENST00000549996.5
Genome
hg38
Position
chr12:100,473,916-100,563,511
Strand
+
CDS length
1,278
Amino acid length
426
Gene symbol
NR1H4
Gene type
protein-coding
Gene description
nuclear receptor subfamily 1 group H member 4
Gene Entrez Gene ID
9971
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
1 100,473,916 100,474,059
2 100,492,503 100,492,637
3 100,493,270 100,493,402
4 100,510,778 100,511,143
5 100,534,890 100,535,023
6 100,536,512 100,536,610
7 100,536,948 100,537,047
8 100,540,672 100,540,818
9 100,561,885 100,561,998
10 100,563,251 100,563,511
CDS
Exon number Type Start Stop
3 CDS 100,493,324 100,493,402
4 CDS 100,510,778 100,511,143
5 CDS 100,534,890 100,535,023
6 CDS 100,536,512 100,536,610
7 CDS 100,536,948 100,537,047
8 CDS 100,540,672 100,540,818
9 CDS 100,561,885 100,561,998
10 CDS 100,563,251 100,563,489
Other genome
Genome Chromosome Start End Links
hg19 chr12 100,867,694 100,957,289 Link
CDS sequence
ATGGGATCAAAAATGAATCTCATTGAACATTCCCATTTACCTACCACAGATGAATTTTCTTTTTCTGAAAATTTATTTGGTGTTTTAACAGAACAAGTGGCAGGTCCTCTGGGACAGAACCTGGAAGTGGAACCATACTCGCAATACAGCAATGTTCAGTTTCCCCAAGTTCAACCACAGATTTCCTCGTCATCCTATTATTCCAACCTGGGTTTCTACCCCCAGCAGCCTGAAGAGTGGTACTCTCCTGGAATATATGAACTCAGGCGTATGCCAGCTGAGACTCTCTACCAGGGAGAAACTGAGGTAGCAGAGATGCCTGTAACAAAGAAGCCCCGCATGGGCGCGTCAGCAGGGAGGATCAAAGGGGATGAGCTGTGTGTTGTTTGTGGAGACAGAGCCTCTGGATACCACTATAATGCACTGACCTGTGAGGGGTGTAAAGGCTTGTTAACTGAAATTCAGTGTAAATCTAAGCGACTGAGAAAAAATGTGAAGCAGCATGCAGATCAGACCGTGAATGAAGACAGTGAAGGTCGTGACTTGCGACAAGTGACCTCGACAACAAAGTCATGCAGGGAGAAAACTGAACTCACCCCAGATCAACAGACTCTTCTACATTTTATTATGGATTCATATAACAAACAGAGGATGCCTCAGGAAATAACAAATAAAATTTTAAAAGAAGAATTCAGTGCAGAAGAAAATTTTCTCATTTTGACGGAAATGGCAACCAATCATGTACAGGTTCTTGTAGAATTCACAAAAAAGCTACCAGGATTTCAGACTTTGGACCATGAAGACCAGATTGCTTTGCTGAAAGGGTCTGCGGTTGAAGCTATGTTCCTTCGTTCAGCTGAGATTTTCAATAAGAAACTTCCGTCTGGGCATTCTGACCTATTGGAAGAAAGAATTCGAAATAGTGGTATCTCTGATGAATATATAACACCTATGTTTAGTTTTTATAAAAGTATTGGGGAACTGAAAATGACTCAAGAGGAGTATGCTCTGCTTACAGCAATTGTTATCCTGTCTCCAGATAGACAATACATAAAGGATAGAGAGGCAGTAGAGAAGCTTCAGGAGCCACTTCTTGATGTGCTACAAAAGTTGTGTAAGATTCACCAGCCTGAAAATCCTCAACACTTTGCCTGTCTCCTGGGTCGCCTGACTGAATTACGGACATTCAATCATCACCACGCTGAGATGCTGATGTCATGGAGAGTAAACGACCACAAGTTTACCCCACTTCTCTGTGAAATCTGGGACGTGCAGTGA
Amino sequence
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*