ENST00000425815.6 SMARCAL1

Information
Transcript ID
ENST00000425815.6
Genome
hg38
Position
chr2:216,412,561-216,483,036
Strand
+
CDS length
2,865
Amino acid length
955
Gene symbol
SMARCAL1
Gene type
protein-coding
Gene description
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Gene Entrez Gene ID
50485
Variants

Display target variant


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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
Search Word
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
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
1 216,412,561 216,412,717
2 216,413,856 216,413,892
3 216,414,647 216,415,515
4 216,416,257 216,416,307
5 216,420,299 216,420,532
6 216,423,633 216,423,683
7 216,428,596 216,428,782
8 216,432,718 216,432,868
9 216,435,338 216,435,496
10 216,438,420 216,438,485
11 216,447,018 216,447,158
12 216,450,846 216,451,064
13 216,464,597 216,464,667
14 216,467,944 216,468,046
15 216,475,269 216,475,451
16 216,477,109 216,477,209
17 216,478,203 216,478,299
18 216,482,738 216,483,036
CDS
Exon number Type Start Stop
3 CDS 216,414,705 216,415,515
4 CDS 216,416,257 216,416,307
5 CDS 216,420,299 216,420,532
6 CDS 216,423,633 216,423,683
7 CDS 216,428,596 216,428,782
8 CDS 216,432,718 216,432,868
9 CDS 216,435,338 216,435,496
10 CDS 216,438,420 216,438,485
11 CDS 216,447,018 216,447,158
12 CDS 216,450,846 216,451,064
13 CDS 216,464,597 216,464,667
14 CDS 216,467,944 216,468,046
15 CDS 216,475,269 216,475,451
16 CDS 216,477,109 216,477,209
17 CDS 216,478,203 216,478,299
18 CDS 216,482,738 216,482,977
Other genome
Genome Chromosome Start End Links
hg19 chr2 217,277,284 217,347,759 Link
CDS sequence
ATGTCCTTGCCTCTTACAGAGGAGCAGAGGAAAAAGATTGAAGAGAATCGACAAAAGGCTCTGGCCCGCAGAGCTGAGAAGTTATTGGCAGAACAGCATCAGAGGACTAGCTCGGGCACCTCCATTGCTGGCAACCCATTCCAGGCCAAGCAAGGCCCATCCCAAAATTTCCCAAGGGAGTCTTGTAAGCCAGTGAGCCATGGTGTCATTTTCAAGCAACAGAATCTCAGTAGCTCATCTAATGCTGACCAAAGACCTCATGATTCCCACAGTTTTCAGGCAAAGGGAATATGGAAAAAGCCAGAAGAAATGCCCACAGCCTGCCCAGGCCACAGTCCACGTAGTCAAATGGCTCTCACTGGAATCTCTCCTCCCTTGGCACAAAGTCCTCCAGAGGTCCCTAAACAACAGCTCTTGAGTTATGAGTTAGGTCAAGGTCATGCTCAGGCTTCACCTGAGATCAGGTTCACACCCTTTGCTAACCCAACTCATAAGCCTCTGGCCAAACCAAAGAGTTCCCAAGAGACACCAGCTCATTCCTCTGGACAGCCTCCCAGGGATGCTAAGTTAGAGGCCAAGACAGCAAAAGCCTCCCCTTCGGGGCAGAACATTTCTTACATCCATTCTAGCTCAGAGAGTGTAACGCCCAGGACAGAAGGAAGACTCCAGCAGAAGTCAGGGTCCTCAGTCCAAAAAGGAGTGAACTCTCAGAAGGGAAAGTGCGTAAGGAACGGCGATCGTTTCCAGGTGTTGATTGGGTACAATGCGGAACTCATTGCAGTGTTTAAGACCCTGCCCAGCAAGAATTATGATCCTGACACCAAGACGTGGAACTTCAGCATGAATGACTATAGTGCCCTGATGAAAGCAGCCCAGAGCCTCCCCACGGTCAACCTGCAGCCTCTGGAATGGGCCTATGGCAGCAGCGAGTCACCCTCCACCAGCAGTGAGGGACAGGCCGGCCTTCCATCAGCTCCATCCCTTTCATTTGTCAAAGGGCGATGCATGCTCATCTCCAGGGCCTACTTCGAGGCAGACATCAGTTATTCACAGGACCTTATTGCGCTTTTTAAACAGATGGATTCCAGAAGATATGATGTCAAGACCAGGAAGTGGAGCTTTCTCTTGGAAGAGCACAGTAAACTAATTGCAAAGGTGCGCTGCCTCCCACAAGTTCAGCTGGACCCTCTGCCCACGACTCTCACCCTGGCGTTTGCTTCTCAGCTCAAGAAGACATCTCTCAGTCTCACGCCAGATGTCCCAGAGGCAGACCTTTCTGAAGTGGACCCCAAGCTCGTGTCTAATCTGATGCCCTTTCAGAGAGCTGGAGTCAATTTTGCCATAGCCAAAGGAGGCCGCCTGCTGCTCGCTGACGACATGGGCCTGGGGAAGACCATCCAAGCCATCTGCATCGCAGCCTTTTACCGGAAGGAGTGGCCGCTCCTGGTGGTGGTGCCATCCTCCGTGCGCTTCACCTGGGAGCAGGCCTTCCTTCGGTGGCTGCCATCTCTGAGCCCAGATTGCATCAACGTCGTGGTGACTGGGAAGGACCGCCTGACAGCTGGCCTGATCAACATTGTCAGCTTTGACCTTCTTAGCAAGTTGGAAAAACAGCTAAAAACCCCTTTTAAAGTTGTCATCATTGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTTGCCAAGAGGGTGATCCTGTTGTCGGGCACACCAGCCATGTCCCGGCCCGCAGAGCTCTACACGCAGATCATCGCAGTCAAGCCAACTTTCTTCCCCCAGTTTCATGCCTTTGGACTTCGCTACTGTGATGCCAAACGGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTAAACAGCAGCAGAAAGATGCCCTCATTCTCTTCTTCAACAGAACAGCTGAAGCTAAAATCCCATCTGTCATTGAATATATCTTGGACCTACTGGAAAGTGGAAGAGAGAAGTTTTTAGTATTTGCACACCATAAGGTGGTCCTGGACGCAATTACGCAAGAGCTTGAGAGAAAGCACGTGCAGCACATCCGCATCGATGGCTCCACCTCATCAGCTGAGCGGGAGGACCTGTGCCAGCAGTTCCAACTGTCGGAGAGGCATGCTGTGGCCGTGCTGTCCATCACCGCTGCCAATATGGGCCTCACCTTCTCCTCGGCTGACCTGGTGGTGTTTGCTGAGCTGTTTTGGAACCCAGGGGTGCTGATCCAGGCTGAGGACCGCGTGCACCGCATTGGACAGACCAGCTCCGTGGGCATTCACTACCTCGTGGCAAAGGGCACAGCTGATGACTACCTTTGGCCCCTGATTCAAGAGAAGATTAAAGTTCTGGCAGAAGCCGGGCTTTCTGAGACCAATTTTTCAGAAATGACAGAATCCACTGATTACCTCTACAAGGACCCAAAGCAGCAGAAGATCTACGACCTATTCCAGAAGTCCTTTGAGAAAGAAGGAAGTGATATGGAGCTCCTGGAAGCAGCAGAGTCCTTTGACCCAGGAAGTGCTTCAGGAACATCTGGAAGTAGTTCCCAGAACATGGGAGACACCCTGGATGAAAGCTCATTGACAGCCAGTCCACAGAAGAAAAGGAGATTTGAATTTTTTGATAACTGGGACAGCTTTACGTCTCCCCTGTAA
Amino sequence
MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQPLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDVPEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLKTPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPTFFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVAVLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADDYLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELLEAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL*