ENST00000333137.12 SMTN

Information
Transcript ID
ENST00000333137.12
Genome
hg19
Position
chr22:31,477,304-31,500,610
Strand
+
CDS length
2,748
Amino acid length
916
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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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 31,477,304 31,477,442
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 31,491,289 31,491,441
13 31,491,520 31,491,595
14 31,492,719 31,492,883
15 31,492,984 31,493,046
16 31,493,255 31,493,324
17 31,494,653 31,494,826
18 31,495,048 31,495,165
19 31,495,731 31,495,882
20 31,496,871 31,497,035
21 31,500,302 31,500,610
CDS
Exon number Type Start Stop
2 CDS 31,479,245 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 31,491,289 31,491,441
13 CDS 31,491,520 31,491,595
14 CDS 31,492,719 31,492,883
15 CDS 31,492,984 31,493,046
16 CDS 31,493,255 31,493,324
17 CDS 31,494,653 31,494,826
18 CDS 31,495,048 31,495,165
19 CDS 31,495,731 31,495,882
20 CDS 31,496,871 31,497,015
Other genome
Genome Chromosome Start End Links
hg38 chr22 31,081,318 31,104,624 Link
CDS sequence
ATGGCGGACGAGGCCTTAGCTGGGCTGGATGAGGGAGCCCTTCGGAAGCTGCTGGAGGTCACAGCAGATCTGGCAGAGCGGCGGCGCATCCGCTCAGCCATCCGGGAACTGCAGCGGCAGGAGCTGGAGCGCGAGGAGGAGGCCCTGGCATCCAAGCGTTTCCGTGCCGAGCGGCAGGACAACAAGGAGAACTGGCTGCACTCTCAGCAGCGGGAAGCTGAGCAGCGGGCTGCCCTGGCACGGCTGGCAGGGCAGCTGGAGTCCATGAACGATGTGGAGGAATTGACTGCACTGTTGCGAAGCGCTGGTGAGTATGAGGAGCGCAAGCTGATCCGAGCTGCCATCCGCCGTGTACGGGCTCAGGAGATTGAGGCTGCCACCTTGGCTGGGAGGTTGTACAGCGGGCGTCCCAACAGTGGCTCAAGAGAGGACAGCAAGGGGCTAGCGGCACACAGGCTGGAACAGTGTGAGGTGCCAGAGCGAGAGGAACAGGAACAGCAGGCAGAGGTTTCAAAGCCAACCCCCACCCCTGAAGGCACCAGCCAGGATGTGACCACAGTGACACTCCTGCTGCGAGCCCCACCTGGGAGCACATCCAGCTCACCTGCCTCACCCAGCAGTTCACCCACCCCTGCCTCTCCTGAGCCTCCATTGGAGCCTGCCGAGGCCCAGTGCCTTACAGCTGAGGTTCCAGGCAGCCCAGAGCCACCCCCCAGCCCACCCAAGACCACCAGCCCTGAGCCTCAGGAGTCTCCAACGCTCCCCAGCACTGAGGGCCAGGTGGTCAACAAGCTTCTGTCTGGCCCCAAAGAGACCCCTGCTGCCCAGAGCCCCACCAGAGGCCCCTCTGACACCAAGAGAGCAGACGTGGCTGGACCCCGACCCTGCCAACGCTCCCTGTCGGTGCTCAGCCCCCGCCAACCAGCCCAGAACCGAGAGTCCACCCCCCTTGCCAGCGGACCTTCCTCATTCCAGCGGGCTGGCTCTGTGCGGGATCGTGTCCACAAGTTCACATCTGATTCTCCTATGGCTGCTAGGCTCCAGGATGGCACACCCCAGGCTGCCCTAAGTCCCCTGACCCCCGCAAGGCTCCTGGGCCCCTCCCTCACCAGCACCACCCCTGCCTCCTCCTCCAGCGGCTCCTCCTCTCGGGGCCCCAGTGATACCTCCTCCCGGTTCAGCAAGGAGCAACGAGGAGTAGCCCAGCCCCTGGCCCAGCTTCGAAGCTGCCCCCAGGAGGAGGGCCCCAGGGGGCGGGGCTTGGCTGCTAGGCCCCTTGAAAACAGAGCAGGGGGGCCTGTGGCACGTTCAGAGGAGCCTGGTGCCCCGCTGCCCGTGGCCGTCGGCACTGCCGAGCCAGGGGGCAGTATGAAGACCACATTCACCATCGAGATCAAGGACGGCCGTGGCCAGGCCTCCACAGGCCGGGTGCTGCTGCCCACAGGCAACCAGAGGGCAGAACTGACACTGGGGCTGCGGGCGCCCCCGACCCTACTCAGCACCAGTAGTGGGGGCAAGAGCACCATCACCCGTGTCAACAGCCCTGGGACCCTGGCTCGGCTGGGCAGTGTCACTCATGTCACCAGCTTCAGCCATGCCCCCCCCAGTAGCCGAGGAGGCTGCAGCATCAAGATGGAAGCAGAGCCAGCAGAGCCTCTCGCTGCAGCAGTGGAAGCGGCCAATGGGGCTGAGCAGACCCGAGTGAACAAAGCACCAGAAGGGCGGAGCCCTCTGAGCGCTGAGGAGCTGATGACTATTGAGGATGAAGGAGTCTTGGACAAGATGCTGGATCAGAGCACGGACTTTGAAGAGCGGAAGCTCATCCGGGCTGCACTTCGTGAGCTCCGACAAAGGAAGAGAGACCAGCGGGACAAGGAGCGGGAACGGCGGCTGCAGGAGGCACGGGGCCGGCCAGGGGAGGGGCGCGGCAACACAGCCACTGAGACCACCACGAGGCACAGCCAGCGGGCAGCTGATGGCTCTGCTGTCAGCACTGTTACCAAGACTGAGCGGCTCGTCCACTCCAATGATGGCACACGGACGGCCCGCACCACCACAGTGGAGTCGAGTTTCGTGAGGCGCTCGGAGAATGGCAGTGGCAGCACCATGATGCAAACCAAGACCTTCTCCTCTTCCTCCTCATCCAAGAAGATGGGCAGCATCTTCGACCGCGAGGACCAGGCCAGCCCACGGGCCGGCAGCCTGGCGGCGCTCGAGAAACGGCAGGCCGAGAAGAAGAAAGAGCTGATGAAGGCGCAGAGTCTGCCCAAGACCTCAGCCTCCCAGGCGCGCAAGGCCATGATTGAGAAGCTGGAGAAGGAGGGCGCGGCCGGCAGCCCTGGCGGACCCCGCGCAGCCGTGCAGCGATCCACCAGCTTCGGGGTCCCCAACGCCAACAGCATCAAGCAGATGCTGCTGGACTGGTGTCGAGCCAAGACTCGCGGCTACGAGCACGTCGACATCCAGAACTTCTCCTCCAGCTGGAGTGATGGGATGGCCTTCTGTGCCCTGGTGCACAACTTCTTCCCTGAGGCCTTCGACTATGGGCAGCTTAGCCCTCAGAACCGACGCCAGAACTTCGAGGTGGCCTTCTCATCTGCGGAGACCCATGCGGACTGCCCGCAGCTCCTGGATACAGAGGACATGGTGCGGCTTCGAGAGCCTGACTGGAAGTGCGTGTACACGTACATCCAGGAATTCTACCGCTGTCTGGTCCAGAAGGGGCTGGTAAAAACCAAAAAGTCCTAA
Amino sequence
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAETHADCPQLLDTEDMVRLREPDWKCVYTYIQEFYRCLVQKGLVKTKKS*