Special

HsaEX0021050 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56600069-56610562:-
Coord C1 exon
chr6:56610427-56610562
Coord A exon
chr6:56603837-56609344
Coord C2 exon
chr6:56600069-56600221
Length
5508 bp
Sequences
Splice sites
3' ss Seq
TTTTTGCATTTTCCTTTCAGCTG
3' ss Score
10.21
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
Exon sequences
Seq C1 exon
AATGACAGATGAAGAAAGAAATGAATTGGAAAAACAAGTGAAAACTCTTCAGGAAAGTTATAATTTATTATTCAGTGAATCTCTGAAACAGCTACAAGAATCACAAACCTCAGGAGATGTAAAGGTAGAGGAGAAG
Seq A exon
CTGGATAAAGTGATTGCAGGCACCATTGATCAGACAACTGGAGAAGTCCTTTCAGTCTTTCAAGCAGTTTTAAGAGGCCTCATTGACTATGACACAGGAATTAGGTTGCTTGAGACACAGCTAATGATTTCTGGTCTAATTTCACCAGAATTAAGAAAGTGCTTTGACCTTAAAGATGCCAAAAGTCATGGCCTTATTGATGAACAAATTCTGTGCCAACTCAAAGAACTAAGTAAAGCTAAGGAGATTATTTCTGCTGCGTCACCTACCACAATTCCAGTACTGGATGCTCTAGCTCAAAGCATGATAACAGAATCCATGGCCATCAAAGTTCTTGAGATACTGCTTTCTACAGGCTCTCTGGTTATTCCAGCCACAGGAGAACAGTTGACCCTACAGAAGGCTTTCCAACAGAACTTGGTTTCCTCAGCATTATTTTCTAAAGTTCTGGAAAGGCAAAATATGTGCAAAGATCTTATTGACCCCTGCACCTCTGAGAAGGTTTCTTTAATAGATATGGTACAAAGAAGTACTTTACAGGAAAACACAGGGATGTGGCTTCTACCTGTGAGACCACAAGAAGGAGGTAGAATAACATTAAAATGTGGAAGAAACATAAGCATTTTAAGAGCAGCTCATGAAGGTCTCATAGACCGTGAAACCATGTTTAGGTTGTTAAGTGCACAGCTTCTTTCTGGAGGTCTGATCAATTCCAACTCTGGCCAAAGAATGACTGTTGAAGAAGCTGTCAGAGAAGGGGTGATTGACAGGGACACTGCTAGCAGTATCCTCACATATCAGGTTCAAACTGGTGGAATCATCCAGTCAAACCCTGCCAAGCGTTTAACTGTAGACGAAGCAGTACAGTGTGATTTAATAACTTCCAGCAGTGCTCTTCTGGTCCTGGAAGCTCAGCGAGGCTATGTTGGACTCATTTGGCCCCATTCTGGTGAAATATTTCCCACATCATCTTCCTTGCAGCAAGAATTGATTACAAATGAATTGGCCTACAAAATCCTGAATGGCAGACAAAAAATAGCTGCTCTTTATATTCCAGAAAGTTCTCAAGTCATTGGTTTGGATGCTGCTAAACAGCTAGGAATTATAGACAACAACACAGCATCAATTTTAAAAAATATAACACTGCCTGATAAAATGCCAGATTTAGGAGATTTAGAAGCTTGTAAAAATGCCAGAAGATGGCTCTCTTTTTGTAAATTTCAACCCTCCACAGTTCATGATTACAGACAAGAAGAGGATGTTTTTGATGGAGAAGAACCTGTCACTACTCAGACCTCAGAAGAAACTAAAAAATTATTTCTATCTTATTTAATGATAAATAGCTATATGGATGCAAACACAGGGCAAAGGCTTTTGCTGTACGATGGAGACTTGGATGAGGCTGTTGGCATGCTACTGGAAGGCTGTCATGCAGAATTTGATGGAAACACAGCCATAAAAGAATGTCTCGATGTCTTAAGCTCATCTGGTGTATTTCTTAATAATGCTTCAGGTAGAGAAAAGGATGAATGTACAGCTACACCAAGTAGTTTCAATAAATGTCACTGTGGAGAACCTGAACATGAAGAGACTCCTGAAAATAGAAAGTGTGCTATAGATGAAGAATTTAATGAAATGAGAAATACTGTTATCAATAGTGAATTTTCTCAGTCAGGAAAACTGGCAAGTACAATATCAATTGATCCTAAAGTTAACAGTTCACCCAGTGTGTGTGTTCCCAGTCTCATATCATATTTAACACAGACTGAACTTGCAGACATTAGCATGCTTAGAAGTGACTCTGAAAACATACTTACAAACTATGAAAATCAAAGCCGAGTGGAAACAAATGAACGTGCAAATGAATGTAGTCATTCTAAAAACATTCAAAACTTTCCAAGTGATTTAATAGAAAATCCTATTATGAAATCAAAAATGAGTAAATTCTGTGGTGTGAATGAAACAGAGAATGAAGATAATACAAACAGGGATTCACCTATCTTTGACTATTCCCCCAGGCTAAGTGCCTTGTTAAGTCATGATAAATTGATGCACAGTCAGGGAAGTTTTAATGATACACACACCCCAGAGAGCAATGGAAATAAGTGTGAAGCCCCAGCCTTATCATTCAGTGACAAAACCATGTTGTCAGGTCAAAGAATAGGAGAAAAATTTCAAGACCAGTTTCTGGGAATTGCAGCTATTAACATCAGTTTACCAGGAGAGCAGTATGGACAGAAATCTTTAAATATGATTTCTAGTAATCCTCAAGTACAATATCACAATGATAAATACATTTCAAATACTTCTGGTGAGGATGAAAAAACACATCCAGGTTTTCAGCAGATGCCTGAAGACAAGGAAGATGAGTCTGAAATAGAAGAGTATTCCTGTGCTGTGACTCCAGGGGGTGATACTGATAATGCCATTGTGTCTCTTACTTGTGCTACACCATTGCTTGATGAAACCATCAGTGCTAGTGACTATGAAACGTCACTGCTGAATGATCAGCAGAATAACACAGGAACAGACACTGATAGTGATGATGATTTTTATGATACTCCCTTGTTTGAAGATGATGACCATGATTCTTTGCTTCTTGATGGTGATGATCGTGATTGCCTGCACCCTGAGGACTACGACACACTGCAAGAGGAAAATGATGAGACGGCTTCTCCTGCTGATGTTTTTTATGATGTCTCAAAAGAGAATGAAAATTCCATGGTTCCCCAGGGGGCACCAGTTGGTAGCTTAAGTGTGAAGAACAAAGCACATTGTCTTCAGGATTTCCTTATGGATGTTGAGAAAGATGAATTAGATTCTGGTGAAAAAATACATTTAAATCCTGTTGGCTCAGATAAGGTGAATGGACAGTCACTGGAAACTGGATCAGAAAGGGAATGCACAAATATCCTTGAAGGTGATGAATCTGACTCATTGACTGATTATGATATTGTAGGAGGAAAAGAGAGCTTCACTGCATCATTAAAATTTGATGACAGTGGCAGTTGGAGAGGAAGAAAGGAAGAGTATGTAACTGGACAGGAATTTCACTCCGATACTGATCATTTAGATTCTATGCAAAGTGAAGAAAGTTATGGGGATTATATATATGACAGTAATGATCAGGATGACGATGATGATGATGGCATTGATGAAGAAGGAGGAGGTATAAGAGATGAGAATGGAAAGCCCAGGTGCCAAAATGTGGCTGAAGATATGGATATCCAGTTGTGTGCCTCTATTTTAAATGAAAACAGTGATGAAAATGAAAATATTAATACAATGATTCTTCTGGATAAAATGCACAGTTGTAGCTCTTTAGAAAAACAGCAAAGGGTAAATGTTGTACAGCTAGCATCACCTAGTGAAAATAACTTAGTTACTGAAAAAAGCAACCTTCCAGAATATACAACTGAGATTGCTGGAAAAAGCAAAGAAAATCTGTTGAACCATGAGATGGTACTTAAGGATGTATTGCCGCCTATCATTAAAGACACTGAATCTGAAAAAACTTTTGGCCCTGCAAGTATTTCACATGATAATAATAATATCAGTTCAACTTCTGAATTAGGTACTGATCTAGCAAACACAAAGGTTAAGTTGATTCAAGGGTCAGAATTGCCAGAATTGACTGATTCTGTGAAAGGTAAAGATGAATATTTTAAGAATATGACACCAAAAGTTGACTCATCTCTTGATCACATCATTTGTACTGAGCCTGATTTAATAGGAAAACCTGCTGAGGAAAGCCATTTGTCATTGATAGCCTCTGTAACTGACAAAGATCCTCAAGGAAATGGAAGCGATCTCATTAAAGGGAGAGATGGCAAAAGTGATATTCTAATAGAAGATGAAACATCAATTCAGAAAATGTACTTGGGTGAAGGAGAAGTGCTTGTAGAAGGTCTAGTAGAAGAAGAAAATAGGCATCTCAAACTTTTGCCTGGTAAAAATACAAGGGATAGTTTCAAGTTAATTAATAGTCAGTTTCCATTTCCACAAATCACAAACAATGAAGAACTTAATCAGAAAGGAAGCCTTAAAAAAGCAACTGTAACTCTTAAAGATGAACCAAATAATCTACAAATAATAGTTAGTAAAAGTCCTGTTCAGTTTGAGAATCTTGAAGAAATTTTTGACACATCAGTTTCCAAAGAGATTAGTGATGACATTACTTCAGACATTACATCGTGGGAAGGGAATACACATTTTGAGGAGTCATTCACTGATGGACCTGAGAAAGAGCTTGATCTGTTTACTTACTTAAAACATTGTGCTAAAAATATAAAAGCAAAAGATGTAGCCAAACCAAATGAAGATGTCCCAAGCCATGTTTTAATAACTGCCCCTCCCATGAAAGAACATTTACAATTAGGAGTTAATAATACAAAAGAGAAGTCCACTAGTACCCAAAAAGACTCACCTCTTAATGACATGATCCAAAGCAATGATCTTTGTAGTAAAGAAAGCATCTCAGGAGGAGGAACAGAAATTTCTCAGTTCACACCAGAAAGTATTGAAGCCACACTTTCAATATTATCTCGTAAACATGTAGAAGATGTTGGGAAAAATGATTTTCTGCAGTCGGAGCGGTGTGCAAATGGATTAGGAAATGATAACTCCAGTAACACTTTAAATACTGACTATTCATTCTTAGAAATTAATAATAAGAAAGAAAGAATTGAGCAACAGCTACCAAAAGAACAAGCCTTGTCTCCAAGATCCCAAGAAAAGGAGGTTCAGATTCCTGAATTGTCTCAGGTATTTGTGGAGGATGTAAAGGATATCTTAAAAAGCAGGTTGAAAGAAGGTCATATGAACCCTCAAGAGGTTGAAGAACCTTCAGCCTGTGCAGACACTAAAATTTTAATTCAAAATTTAATTAAAAGGATTACCACATCACAGTTGGTAAATGAGGCATCTACTGTGCCCAGCGACTCTCAAATGAGTGACTCTTCTGGAGTTTCCCCCATGACTAACTCATCAGAACTAAAGCCAGAAAGTAGAGATGATCCTTTCTGTATTGGAAATCTTAAGTCTGAGCTTCTCCTTAATATATTGAAGCAAGATCAACATAGCCAAAAAATTACAGGAGTATTTGAATTGATGAGAGAATTAACTCATATGGAGTATGACCTAGAGAAAAGAGGCATTACGTCTAAAGTACTTCCACTGCAGCTTGAAAATATTTTCTACAAACTGCTTGCTGATGGATATTCAGAGAAAATAGAACATGTTGGAGACTTTAATCAAAAAGCATGTTCTACATCTGAGATGATGGAAGAAAAGCCACATATTCTTGGTGATATTAAAAGCAAAGAAGGAAACTACTATTCTCCTAATTTAGAAACTGTAAAAGAAATTGGACTAGAAAGCTCTACTGTGTGGGCATCAACATTGCCAAGAGATGAGAAGCTCAAGGATCTGTGTAATGATTTCCCAAGCCATTTGGAATGTACTTCAGGGTCTAAAGAGATGGCTTCTGGAGATAGCTCAACCGAACAA
Seq C2 exon
ATTGTAGCAGAGCGTCAGCAGGAGTATAAAGAGAAACTCCAAGGGATATGTGATCTTCTTACCCAAACTGAAAACCGCCTAATTGGTCACCAAGAAGCCTTCATGATTGGAGATGGCACAGTTGAGTTAAAGAAATATCAGTCCAAGCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_MULTIEX3-1/7=C1-6
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.249 A=0.391 C2=0.052
Domain overlap (PFAM):

C1:
NO
A:
PF0068115=Plectin=PD(91.4=1.7),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.4),PF0068115=Plectin=WD(100=2.5)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Other assemblies
Conservation
Cow
(bosTau6)
ALTERNATIVE
(DST)
Chicken
(galGal4)
ALTERNATIVE
(DST)
Chicken
(galGal3)
ALTERNATIVE
(DST)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development