ENST00000619644.5 SMTN

Information
Transcript ID
ENST00000619644.5
Genome
hg38
Position
chr22:31,082,921-31,104,466
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 :
Filtering :
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 :
Search word :
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 31,082,921 31,083,002
2 31,083,179 31,083,309
3 31,087,965 31,088,113
4 31,088,513 31,088,606
5 31,088,699 31,088,777
6 31,088,872 31,088,969
7 31,089,699 31,090,019
8 31,090,108 31,090,180
9 31,090,808 31,090,879
10 31,090,961 31,091,482
11 31,091,675 31,091,847
12 31,093,784 31,093,876
13 31,095,303 31,095,455
14 31,095,534 31,095,609
15 31,096,733 31,096,897
16 31,096,998 31,097,060
17 31,097,269 31,097,338
18 31,098,667 31,098,840
19 31,099,062 31,099,179
20 31,099,745 31,099,896
21 31,104,316 31,104,466
CDS
Exon number Type Start Stop
1 CDS 31,082,921 31,083,002
2 CDS 31,083,179 31,083,309
3 CDS 31,087,965 31,088,113
4 CDS 31,088,513 31,088,606
5 CDS 31,088,699 31,088,777
6 CDS 31,088,872 31,088,969
7 CDS 31,089,699 31,090,019
8 CDS 31,090,108 31,090,180
9 CDS 31,090,808 31,090,879
10 CDS 31,090,961 31,091,482
11 CDS 31,091,675 31,091,847
12 CDS 31,093,784 31,093,876
13 CDS 31,095,303 31,095,455
14 CDS 31,095,534 31,095,609
15 CDS 31,096,733 31,096,897
16 CDS 31,096,998 31,097,060
17 CDS 31,097,269 31,097,338
18 CDS 31,098,667 31,098,840
19 CDS 31,099,062 31,099,179
20 CDS 31,099,745 31,099,896
21 CDS 31,104,316 31,104,466
Other genome
Genome Chromosome Start End Links
hg19 chr22 31,478,907 31,500,452 Link
CDS sequence
ATGAGAGTCCATCCCAGGCCACACAGCAGACTGGCGGCCAAGCTGGCAGGGCTGGAACCAGAGACCCCCTACCCTGGGTTTGAATTCTCTGAGCTGGTGACAGGTGCCACAGGCACTGGGGATCTCACCAGAAAGGAACCGACGGAGCTAGGGGCCAGCGAGATGGCGGACGAGGCCTTAGCTGGGCTGGATGAGGGAGCCCTTCGGAAGCTGCTGGAGGTCACAGCAGATCTGGCAGAGCGGCGGCGCATCCGCTCAGCCATCCGGGAACTGCAGCGGCAGGAGCTGGAGCGCGAGGAGGAGGCCCTGGCATCCAAGCGTTTCCGTGCCGAGCGGCAGGACAACAAGGAGAACTGGCTGCACTCTCAGCAGCGGGAAGCTGAGCAGCGGGCTGCCCTGGCACGGCTGGCAGGGCAGCTGGAGTCCATGAACGATGTGGAGGAATTGACTGCACTGTTGCGAAGCGCTGGTGAGTATGAGGAGCGCAAGCTGATCCGAGCTGCCATCCGCCGTGTACGGGCTCAGGAGATTGAGGCTGCCACCTTGGCTGGGAGGTTGTACAGCGGGCGTCCCAACAGTGGCTCAAGAGAGGACAGCAAGGGGCTAGCGGCACACAGGCTGGAACAGTGTGAGGTGCCAGAGCGAGAGGAACAGGAACAGCAGGCAGAGGTTTCAAAGCCAACCCCCACCCCTGAAGGCACCAGCCAGGATGTGACCACAGTGACACTCCTGCTGCGAGCCCCACCTGGGAGCACATCCAGCTCACCTGCCTCACCCAGCAGTTCACCCACCCCTGCCTCTCCTGAGCCTCCATTGGAGCCTGCCGAGGCCCAGTGCCTTACAGCTGAGGTTCCAGGCAGCCCAGAGCCACCCCCCAGCCCACCCAAGACCACCAGCCCTGAGCCTCAGGAGTCTCCAACGCTCCCCAGCACTGAGGGCCAGGTGGTCAACAAGCTTCTGTCTGGCCCCAAAGAGACCCCTGCTGCCCAGAGCCCCACCAGAGGCCCCTCTGACACCAAGAGAGCAGACGTGGCTGGACCCCGACCCTGCCAACGCTCCCTGTCGGTGCTCAGCCCCCGCCAACCAGCCCAGAACCGAGAGTCCACCCCCCTTGCCAGCGGACCTTCCTCATTCCAGCGGGCTGGCTCTGTGCGGGATCGTGTCCACAAGTTCACATCTGATTCTCCTATGGCTGCTAGGCTCCAGGATGGCACACCCCAGGCTGCCCTAAGTCCCCTGACCCCCGCAAGGCTCCTGGGCCCCTCCCTCACCAGCACCACCCCTGCCTCCTCCTCCAGCGGCTCCTCCTCTCGGGGCCCCAGTGATACCTCCTCCCGGTTCAGCAAGGAGCAACGAGGAGTAGCCCAGCCCCTGGCCCAGCTTCGAAGCTGCCCCCAGGAGGAGGGCCCCAGGGGGCGGGGCTTGGCTGCTAGGCCCCTTGAAAACAGAGCAGGGGGGCCTGTGGCACGTTCAGAGGAGCCTGGTGCCCCGCTGCCCGTGGCCGTCGGCACTGCCGAGCCAGGGGGCAGTATGAAGACCACATTCACCATCGAGATCAAGGACGGCCGTGGCCAGGCCTCCACAGGCCGGGTGCTGCTGCCCACAGGCAACCAGAGGGCAGAACTGACACTGGGGCTGCGGGCGCCCCCGACCCTACTCAGCACCAGTAGTGGGGGCAAGAGCACCATCACCCGTGTCAACAGCCCTGGGACCCTGGCTCGGCTGGGCAGTGTCACTCATGTCACCAGCTTCAGCCATGCCCCCCCCAGTAGCCGAGGAGGCTGCAGCATCAAGGCTGCCGAGGATGCCGGGACCCCCGTGGCCCACCCACCTGCCTTCAGCACCCGCCGCCGCTCCTCCACCGGCACCACCCGCAGCACTAGTCTCATGGAAGCAGAGCCAGCAGAGCCTCTCGCTGCAGCAGTGGAAGCGGCCAATGGGGCTGAGCAGACCCGAGTGAACAAAGCACCAGAAGGGCGGAGCCCTCTGAGCGCTGAGGAGCTGATGACTATTGAGGATGAAGGAGTCTTGGACAAGATGCTGGATCAGAGCACGGACTTTGAAGAGCGGAAGCTCATCCGGGCTGCACTTCGTGAGCTCCGACAAAGGAAGAGAGACCAGCGGGACAAGGAGCGGGAACGGCGGCTGCAGGAGGCACGGGGCCGGCCAGGGGAGGGGCGCGGCAACACAGCCACTGAGACCACCACGAGGCACAGCCAGCGGGCAGCTGATGGCTCTGCTGTCAGCACTGTTACCAAGACTGAGCGGCTCGTCCACTCCAATGATGGCACACGGACGGCCCGCACCACCACAGTGGAGTCGAGTTTCGTGAGGCGCTCGGAGAATGGCAGTGGCAGCACCATGATGCAAACCAAGACCTTCTCCTCTTCCTCCTCATCCAAGAAGATGGGCAGCATCTTCGACCGCGAGGACCAGGCCAGCCCACGGGCCGGCAGCCTGGCGGCGCTCGAGAAACGGCAGGCCGAGAAGAAGAAAGAGCTGATGAAGGCGCAGAGTCTGCCCAAGACCTCAGCCTCCCAGGCGCGCAAGGCCATGATTGAGAAGCTGGAGAAGGAGGGCGCGGCCGGCAGCCCTGGCGGACCCCGCGCAGCCGTGCAGCGATCCACCAGCTTCGGGGTCCCCAACGCCAACAGCATCAAGCAGATGCTGCTGGACTGGTGTCGAGCCAAGACTCGCGGCTACGAGCACGTCGACATCCAGAACTTCTCCTCCAGCTGGAGTGATGGGATGGCCTTCTGTGCCCTGGTGCACAACTTCTTCCCTGAGGCCTTCGACTATGGGCAGCTTAGCCCTCAGAACCGACGCCAGAACTTCGAGGTGGCCTTCTCATCTGCGGAGATGCTGGTGGACTGTGTGCCCCTGGTGGAGGTGGACGACATGATGATCATGGGCAAGAAGCCTGACCCCAAGTGTGTCTTCACCTATGTGCAGTCGCTCTACAACCACCTGCGACGCCACGAACTGCGCCTGCGCGGCAAGAATGTCTAG
Amino sequence
MRVHPRPHSRLAAKLAGLEPETPYPGFEFSELVTGATGTGDLTRKEPTELGASEMADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKAAEDAGTPVAHPPAFSTRRRSSTGTTRSTSLMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV*