ENST00000619644.5 SMTN

Information
Transcript ID
ENST00000619644.5
Genome
hg19
Position
chr22:31,478,907-31,500,452
Strand
+
CDS length
3,009
Amino acid length
1,003
Gene symbol
SMTN
Gene type
protein-coding
Gene description
smoothelin
Gene Entrez Gene ID
6525
Variants

Display target variant


Search Word
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
Search Word
Target data :
MGeND data only
Category :
Search word :
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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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Filtering :
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 31,478,907 31,478,988
2 31,479,165 31,479,295
3 31,483,951 31,484,099
4 31,484,499 31,484,592
5 31,484,685 31,484,763
6 31,484,858 31,484,955
7 31,485,685 31,486,005
8 31,486,094 31,486,166
9 31,486,794 31,486,865
10 31,486,947 31,487,468
11 31,487,661 31,487,833
12 31,489,770 31,489,862
13 31,491,289 31,491,441
14 31,491,520 31,491,595
15 31,492,719 31,492,883
16 31,492,984 31,493,046
17 31,493,255 31,493,324
18 31,494,653 31,494,826
19 31,495,048 31,495,165
20 31,495,731 31,495,882
21 31,500,302 31,500,452
CDS
Exon number Type Start Stop
1 CDS 31,478,907 31,478,988
2 CDS 31,479,165 31,479,295
3 CDS 31,483,951 31,484,099
4 CDS 31,484,499 31,484,592
5 CDS 31,484,685 31,484,763
6 CDS 31,484,858 31,484,955
7 CDS 31,485,685 31,486,005
8 CDS 31,486,094 31,486,166
9 CDS 31,486,794 31,486,865
10 CDS 31,486,947 31,487,468
11 CDS 31,487,661 31,487,833
12 CDS 31,489,770 31,489,862
13 CDS 31,491,289 31,491,441
14 CDS 31,491,520 31,491,595
15 CDS 31,492,719 31,492,883
16 CDS 31,492,984 31,493,046
17 CDS 31,493,255 31,493,324
18 CDS 31,494,653 31,494,826
19 CDS 31,495,048 31,495,165
20 CDS 31,495,731 31,495,882
21 CDS 31,500,302 31,500,452
Other genome
Genome Chromosome Start End Links
hg38 chr22 31,082,921 31,104,466 Link
CDS sequence
ATGAGAGTCCATCCCAGGCCACACAGCAGACTGGCGGCCAAGCTGGCAGGGCTGGAACCAGAGACCCCCTACCCTGGGTTTGAATTCTCTGAGCTGGTGACAGGTGCCACAGGCACTGGGGATCTCACCAGAAAGGAACCGACGGAGCTAGGGGCCAGCGAGATGGCGGACGAGGCCTTAGCTGGGCTGGATGAGGGAGCCCTTCGGAAGCTGCTGGAGGTCACAGCAGATCTGGCAGAGCGGCGGCGCATCCGCTCAGCCATCCGGGAACTGCAGCGGCAGGAGCTGGAGCGCGAGGAGGAGGCCCTGGCATCCAAGCGTTTCCGTGCCGAGCGGCAGGACAACAAGGAGAACTGGCTGCACTCTCAGCAGCGGGAAGCTGAGCAGCGGGCTGCCCTGGCACGGCTGGCAGGGCAGCTGGAGTCCATGAACGATGTGGAGGAATTGACTGCACTGTTGCGAAGCGCTGGTGAGTATGAGGAGCGCAAGCTGATCCGAGCTGCCATCCGCCGTGTACGGGCTCAGGAGATTGAGGCTGCCACCTTGGCTGGGAGGTTGTACAGCGGGCGTCCCAACAGTGGCTCAAGAGAGGACAGCAAGGGGCTAGCGGCACACAGGCTGGAACAGTGTGAGGTGCCAGAGCGAGAGGAACAGGAACAGCAGGCAGAGGTTTCAAAGCCAACCCCCACCCCTGAAGGCACCAGCCAGGATGTGACCACAGTGACACTCCTGCTGCGAGCCCCACCTGGGAGCACATCCAGCTCACCTGCCTCACCCAGCAGTTCACCCACCCCTGCCTCTCCTGAGCCTCCATTGGAGCCTGCCGAGGCCCAGTGCCTTACAGCTGAGGTTCCAGGCAGCCCAGAGCCACCCCCCAGCCCACCCAAGACCACCAGCCCTGAGCCTCAGGAGTCTCCAACGCTCCCCAGCACTGAGGGCCAGGTGGTCAACAAGCTTCTGTCTGGCCCCAAAGAGACCCCTGCTGCCCAGAGCCCCACCAGAGGCCCCTCTGACACCAAGAGAGCAGACGTGGCTGGACCCCGACCCTGCCAACGCTCCCTGTCGGTGCTCAGCCCCCGCCAACCAGCCCAGAACCGAGAGTCCACCCCCCTTGCCAGCGGACCTTCCTCATTCCAGCGGGCTGGCTCTGTGCGGGATCGTGTCCACAAGTTCACATCTGATTCTCCTATGGCTGCTAGGCTCCAGGATGGCACACCCCAGGCTGCCCTAAGTCCCCTGACCCCCGCAAGGCTCCTGGGCCCCTCCCTCACCAGCACCACCCCTGCCTCCTCCTCCAGCGGCTCCTCCTCTCGGGGCCCCAGTGATACCTCCTCCCGGTTCAGCAAGGAGCAACGAGGAGTAGCCCAGCCCCTGGCCCAGCTTCGAAGCTGCCCCCAGGAGGAGGGCCCCAGGGGGCGGGGCTTGGCTGCTAGGCCCCTTGAAAACAGAGCAGGGGGGCCTGTGGCACGTTCAGAGGAGCCTGGTGCCCCGCTGCCCGTGGCCGTCGGCACTGCCGAGCCAGGGGGCAGTATGAAGACCACATTCACCATCGAGATCAAGGACGGCCGTGGCCAGGCCTCCACAGGCCGGGTGCTGCTGCCCACAGGCAACCAGAGGGCAGAACTGACACTGGGGCTGCGGGCGCCCCCGACCCTACTCAGCACCAGTAGTGGGGGCAAGAGCACCATCACCCGTGTCAACAGCCCTGGGACCCTGGCTCGGCTGGGCAGTGTCACTCATGTCACCAGCTTCAGCCATGCCCCCCCCAGTAGCCGAGGAGGCTGCAGCATCAAGGCTGCCGAGGATGCCGGGACCCCCGTGGCCCACCCACCTGCCTTCAGCACCCGCCGCCGCTCCTCCACCGGCACCACCCGCAGCACTAGTCTCATGGAAGCAGAGCCAGCAGAGCCTCTCGCTGCAGCAGTGGAAGCGGCCAATGGGGCTGAGCAGACCCGAGTGAACAAAGCACCAGAAGGGCGGAGCCCTCTGAGCGCTGAGGAGCTGATGACTATTGAGGATGAAGGAGTCTTGGACAAGATGCTGGATCAGAGCACGGACTTTGAAGAGCGGAAGCTCATCCGGGCTGCACTTCGTGAGCTCCGACAAAGGAAGAGAGACCAGCGGGACAAGGAGCGGGAACGGCGGCTGCAGGAGGCACGGGGCCGGCCAGGGGAGGGGCGCGGCAACACAGCCACTGAGACCACCACGAGGCACAGCCAGCGGGCAGCTGATGGCTCTGCTGTCAGCACTGTTACCAAGACTGAGCGGCTCGTCCACTCCAATGATGGCACACGGACGGCCCGCACCACCACAGTGGAGTCGAGTTTCGTGAGGCGCTCGGAGAATGGCAGTGGCAGCACCATGATGCAAACCAAGACCTTCTCCTCTTCCTCCTCATCCAAGAAGATGGGCAGCATCTTCGACCGCGAGGACCAGGCCAGCCCACGGGCCGGCAGCCTGGCGGCGCTCGAGAAACGGCAGGCCGAGAAGAAGAAAGAGCTGATGAAGGCGCAGAGTCTGCCCAAGACCTCAGCCTCCCAGGCGCGCAAGGCCATGATTGAGAAGCTGGAGAAGGAGGGCGCGGCCGGCAGCCCTGGCGGACCCCGCGCAGCCGTGCAGCGATCCACCAGCTTCGGGGTCCCCAACGCCAACAGCATCAAGCAGATGCTGCTGGACTGGTGTCGAGCCAAGACTCGCGGCTACGAGCACGTCGACATCCAGAACTTCTCCTCCAGCTGGAGTGATGGGATGGCCTTCTGTGCCCTGGTGCACAACTTCTTCCCTGAGGCCTTCGACTATGGGCAGCTTAGCCCTCAGAACCGACGCCAGAACTTCGAGGTGGCCTTCTCATCTGCGGAGATGCTGGTGGACTGTGTGCCCCTGGTGGAGGTGGACGACATGATGATCATGGGCAAGAAGCCTGACCCCAAGTGTGTCTTCACCTATGTGCAGTCGCTCTACAACCACCTGCGACGCCACGAACTGCGCCTGCGCGGCAAGAATGTCTAG
Amino sequence
MRVHPRPHSRLAAKLAGLEPETPYPGFEFSELVTGATGTGDLTRKEPTELGASEMADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKAAEDAGTPVAHPPAFSTRRRSSTGTTRSTSLMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV*