ENST00000647133.2 SPAST

Information
Transcript ID
ENST00000647133.2
Genome
hg38
Position
chr2:32,063,832-32,155,716
Strand
+
CDS length
1,776
Amino acid length
592
Gene symbol
SPAST
Gene type
protein-coding
Gene description
spastin
Gene Entrez Gene ID
6683
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
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 32,063,832 32,064,246
2 32,087,492 32,087,578
3 32,089,522 32,089,605
4 32,098,796 32,098,891
5 32,114,638 32,114,825
6 32,115,702 32,115,835
7 32,116,119 32,116,212
8 32,128,408 32,128,479
9 32,136,563 32,136,638
10 32,136,877 32,136,968
11 32,137,109 32,137,188
12 32,141,904 32,141,946
13 32,143,336 32,143,415
14 32,144,937 32,145,007
15 32,147,218 32,147,258
16 32,154,374 32,155,716
CDS
Exon number Type Start Stop
1 CDS 32,063,832 32,064,246
2 CDS 32,087,492 32,087,578
3 CDS 32,089,522 32,089,605
4 CDS 32,098,796 32,098,891
5 CDS 32,114,638 32,114,825
6 CDS 32,115,702 32,115,835
7 CDS 32,116,119 32,116,212
8 CDS 32,128,408 32,128,479
9 CDS 32,136,563 32,136,638
10 CDS 32,136,877 32,136,968
11 CDS 32,137,109 32,137,188
12 CDS 32,141,904 32,141,946
13 CDS 32,143,336 32,143,415
14 CDS 32,144,937 32,145,007
15 CDS 32,147,218 32,147,258
16 CDS 32,154,374 32,154,496
Other genome
Genome Chromosome Start End Links
hg19 chr2 32,288,901 32,380,785 Link
CDS sequence
ATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCGCCAGCAACCCGGTGCCTCCCAGGCCTCCGCCCCCTTGCCTGGCCCCCGCCCCTCCCGCCGCCGGGCCGGCCCCTCCGCCCGAGTCGCCGCATAAGCGGAACCTGTACTATTTCTCCTACCCGCTGTTTGTAGGCTTCGCGCTGCTGCGTTTGGTCGCCTTCCACCTGGGGCTCCTCTTCGTGTGGCTCTGCCAGCGCTTCTCCCGCGCCCTCATGGCAGCCAAGAGGAGCTCCGGGGCCGCGCCAGCACCTGCCTCGGCCTCGGCCCCGGCGCCGGTGCCGGGCGGCGAGGCCGAGCGCGTCCGAGTCTTCCACAAACAGGCCTTCGAGTACATCTCCATTGCCCTGCGCATCGATGAGGATGAGAAAGCAGGACAGAAGGAGCAAGCTGTGGAATGGTATAAGAAAGGTATTGAAGAACTGGAAAAAGGAATAGCTGTTATAGTTACAGGACAAGGTGAACAGTGTGAAAGAGCTAGACGCCTTCAAGCTAAAATGATGACTAATTTGGTTATGGCCAAGGACCGCTTACAACTTCTAGAGAAGATGCAACCAGTTTTGCCATTTTCCAAGTCACAAACGGACGTCTATAATGACAGTACTAACTTGGCATGCCGCAATGGACATCTCCAGTCAGAAAGTGGAGCTGTTCCAAAAAGAAAAGACCCCTTAACACACACTAGTAATTCACTGCCTCGTTCAAAAACAGTTATGAAAACTGGATCTGCAGGCCTTTCAGGCCACCATAGAGCACCTAGTTACAGTGGTTTATCCATGGTTTCTGGAGTGAAACAGGGATCTGGTCCTGCTCCTACCACTCATAAGGGTACTCCGAAAACAAATAGGACAAATAAACCTTCTACCCCTACAACTGCTACTCGTAAGAAAAAAGACTTGAAGAATTTTAGGAATGTGGACAGCAACCTTGCTAACCTTATAATGAATGAAATTGTGGACAATGGAACAGCTGTTAAATTTGATGATATAGCTGGTCAAGACTTGGCAAAACAAGCATTGCAAGAAATTGTTATTCTTCCTTCTCTGAGGCCTGAGGCTAAAGCAGTAGCTGCAGAATCGAATGCAACCTTCTTTAATATAAGTGCTGCAAGTTTAACTTCAAAATACGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGCGTTTCATCAAACGGGTATATGTGTCTTTACCAAATGAGGAGACAAGACTACTTTTGCTTAAAAATCTGTTATGTAAACAAGGAAGTCCATTGACCCAAAAAGAACTAGCACAACTTGCTAGAATGACTGATGGATACTCAGGAAGTGACCTAACAGCTTTGGCAAAAGATGCAGCACTGGGTCCTATCCGAGAACTAAAACCAGAACAGGTGAAGAATATGTCTGCCAGTGAGATGAGAAATATTCGATTATCTGACTTCACTGAATCCTTGAAAAAAATAAAACGCAGCGTCAGCCCTCAAACTTTAGAAGCGTACATACGTTGGAACAAGGACTTTGGAGATACCACTGTTTAA
Amino sequence
MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVGFALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFHKQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAKMMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHLQSESGAVPKRKDPLTHTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNKPSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVILPSLRPEAKAVAAESNATFFNISAASLTSKYVGEGEKLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQGSPLTQKELAQLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQTLEAYIRWNKDFGDTTV*