ENST00000642999.1 SPAST

Information
Transcript ID
ENST00000642999.1
Genome
hg19
Position
chr2:32,289,037-32,382,551
Strand
+
CDS length
1,593
Amino acid length
531
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 32,289,037 32,289,315
2 32,312,561 32,312,647
3 32,314,591 32,314,674
4 32,323,865 32,323,960
5 32,339,707 32,339,894
6 32,340,771 32,340,904
7 32,341,188 32,341,281
8 32,352,017 32,352,091
9 32,353,477 32,353,548
10 32,361,632 32,361,707
11 32,361,946 32,362,037
12 32,362,178 32,362,257
13 32,366,973 32,367,015
14 32,368,405 32,368,484
15 32,370,006 32,370,076
16 32,372,287 32,372,327
17 32,379,443 32,382,551
CDS
Exon number Type Start Stop
1 CDS 32,289,159 32,289,315
2 CDS 32,312,561 32,312,647
3 CDS 32,314,591 32,314,674
4 CDS 32,323,865 32,323,960
5 CDS 32,339,707 32,339,894
6 CDS 32,340,771 32,340,904
7 CDS 32,341,188 32,341,281
8 CDS 32,352,017 32,352,091
9 CDS 32,353,477 32,353,548
10 CDS 32,361,632 32,361,707
11 CDS 32,361,946 32,362,037
12 CDS 32,362,178 32,362,257
13 CDS 32,366,973 32,367,015
14 CDS 32,368,405 32,368,484
15 CDS 32,370,006 32,370,076
16 CDS 32,372,287 32,372,327
17 CDS 32,379,443 32,379,565
Other genome
Genome Chromosome Start End Links
hg38 chr2 32,063,968 32,157,482 Link
CDS sequence
ATGGCAGCCAAGAGGAGCTCCGGGGCCGCGCCAGCACCTGCCTCGGCCTCGGCCCCGGCGCCGGTGCCGGGCGGCGAGGCCGAGCGCGTCCGAGTCTTCCACAAACAGGCCTTCGAGTACATCTCCATTGCCCTGCGCATCGATGAGGATGAGAAAGCAGGACAGAAGGAGCAAGCTGTGGAATGGTATAAGAAAGGTATTGAAGAACTGGAAAAAGGAATAGCTGTTATAGTTACAGGACAAGGTGAACAGTGTGAAAGAGCTAGACGCCTTCAAGCTAAAATGATGACTAATTTGGTTATGGCCAAGGACCGCTTACAACTTCTAGAGAAGATGCAACCAGTTTTGCCATTTTCCAAGTCACAAACGGACGTCTATAATGACAGTACTAACTTGGCATGCCGCAATGGACATCTCCAGTCAGAAAGTGGAGCTGTTCCAAAAAGAAAAGACCCCTTAACACACACTAGTAATTCACTGCCTCGTTCAAAAACAGTTATGAAAACTGGATCTGCAGGCCTTTCAGGCCACCATAGAGCACCTAGTTACAGTGGTTTATCCATGGTTTCTGGAGTGAAACAGGGATCTGGTCCTGCTCCTACCACTCATAAGGGTACTCCGAAAACAAATAGGACAAATAAACCTTCTACCCCTACAACTGCTACTCGTAAGAAAAAAGACTTGAAGAATTTTAGGAATGTGGACAGCAACCTTGCTAACCTTATAATGAATGAAATTGTGGACAATGGAACAGCTGTTAAATTTGATGATATAGCTGGTCAAGACTTGGCAAAACAAGCATTGCAAGAAATTGTTATTCTTCCTTCTCTGAGGCCTGAGTTGTTCACAGGGCTTAGAGCTCCTGCCAGAGGGCTGTTACTCTTTGGTCCACCTGGGAATGGGAAGACAATGCTGGCTAAAGCAGTAGCTGCAGAATCGAATGCAACCTTCTTTAATATAAGTGCTGCAAGTTTAACTTCAAAATACGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGCGTTTCATCAAACGGGTATATGTGTCTTTACCAAATGAGGAGACAAGACTACTTTTGCTTAAAAATCTGTTATGTAAACAAGGAAGTCCATTGACCCAAAAAGAACTAGCACAACTTGCTAGAATGACTGATGGATACTCAGGAAGTGACCTAACAGCTTTGGCAAAAGATGCAGCACTGGGTCCTATCCGAGAACTAAAACCAGAACAGGTGAAGAATATGTCTGCCAGTGAGATGAGAAATATTCGATTATCTGACTTCACTGAATCCTTGAAAAAAATAAAACGCAGCGTCAGCCCTCAAACTTTAGAAGCGTACATACGTTGGAACAAGGACTTTGGAGATACCACTGTTTAA
Amino sequence
MAAKRSSGAAPAPASASAPAPVPGGEAERVRVFHKQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAKMMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHLQSESGAVPKRKDPLTHTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNKPSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVILPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGEKLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQGSPLTQKELAQLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQTLEAYIRWNKDFGDTTV*