ENST00000538145.5 RHBDL3

Information
Transcript ID
ENST00000538145.5
Genome
hg19
Position
chr17:30,593,196-30,648,382
Strand
+
CDS length
1,191
Amino acid length
397
Gene symbol
RHBDL3
Gene type
protein-coding
Gene description
rhomboid like 3
Gene Entrez Gene ID
162494
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 30,593,196 30,593,319
2 30,611,678 30,611,836
3 30,615,811 30,616,035
4 30,621,313 30,621,461
5 30,625,111 30,625,223
6 30,632,360 30,632,460
7 30,643,251 30,643,311
8 30,647,977 30,648,382
CDS
Exon number Type Start Stop
1 CDS 30,593,209 30,593,319
2 CDS 30,611,678 30,611,836
3 CDS 30,615,811 30,616,035
4 CDS 30,621,313 30,621,461
5 CDS 30,625,111 30,625,223
6 CDS 30,632,360 30,632,460
7 CDS 30,643,251 30,643,311
8 CDS 30,647,977 30,648,248
Other genome
Genome Chromosome Start End Links
hg38 chr17 32,266,177 32,321,363 Link
CDS sequence
ATGGGCGAGCACCCCAGCCCGGGCCCCGCGGTGGCCGCCTGCGCCGAGGCGGAGCGCATCGAGGAGCTGGAACCCGAGGCCGAGGAGCGGCTGCCCGCGGCGCCGGAGGACTTTGACCCTGGGAACACAGGCTACATTAGCACAGGCAAGTTCCGGAGTCTTCTGGAGAGCCACAGCTCCAAGCTGGACCCGCACAAAAGGGAGGTCCTCCTGGCTCTTGCCGACAGCCACGCGGATGGGCAGATCGGCTACCAGGATTTTGTCAGCCTAATGAGCAACAAGCGTTCCAACAGCTTCCGCCAAGCCATCCTGCAGGGCAACCGCAGGCTAAGCAGCAAGGCCCTGCTGGAGGAGAAGGGGCTGAGCCTCTCGCAGCGACTTATCCGCCATGTGGCCTATGAGACCCTGCCCCGGGAAATTGACCGCAAGTGGTACTATGACAGCTACACCTGCTGCCCCCCACCCTGGTTCATGATCACAGTCACGCTGCTGGAGGTTGCCTTTTTCCTCTACAATGGGGTGTCACTAGGTCAATTTGTACTGCAGGTAACTCATCCACGTTACTTGAAGAACTCCCTGGTTTACCACCCACAGCTGCGAGCACAGGTTTGGCGCTACCTGACATACATCTTCATGCATGCAGGGATAGAACACCTGGGACTCAATGTGGTGCTGCAGCTGCTGGTGGGGGTGCCCCTGGAGATGGTGCATGGAGCCACCCGAATTGGGCTTGTCTACGTGGCCGGTGTTGTGGCAGGGTCCTTGGCAGTGTCTGTGGCTGACATGACCGCTCCAGTCGTGGGCTCTTCTGGAGGGGTGTATGCTCTCGTCTCTGCCCATCTGGCCAACATTGTCATGAACTGGTCAGGCATGAAGTGCCAGTTCAAGCTGCTGCGGATGGCTGTGGCCCTTATCTGTATGAGCATGGAGTTTGGGCGGGCCGTGTGGCTCCGCTTCCACCCGTCGGCCTATCCCCCGTGCCCTCACCCAAGCTTTGTGGCGCACTTGGGTGGCGTGGCCGTGGGCATCACCCTGGGCGTGGTGGTCCTGAGGAACTACGAGCAGAGGCTCCAGGACCAGTCACTGTGGTGGATTTTTGTGGCCATGTACACCGTCTTCGTGCTGTTCGCTGTCTTCTGGAACATCTTTGCCTACACCCTGCTGGACTTAAAGCTGCCGCCTCCCCCCTGA
Amino sequence
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNKRSNSFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*