HsaINT0052531 @ hg19
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56464867-56475360:-
Coord C1 exon
chr6:56475225-56475360
Coord A exon
chr6:56465020-56475224
Coord C2 exon
chr6:56464867-56465019
Length
10205 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATA
5' ss Score
8.49
3' ss Seq
TTGGGTTTTCTTCACTTTAGATT
3' ss Score
8.42
Exon sequences
Seq C1 exon
AATGACAGATGAAGAAAGAAATGAATTGGAAAAACAAGTGAAAACTCTTCAGGAAAGTTATAATTTATTATTCAGTGAATCTCTGAAACAGCTACAAGAATCACAAACCTCAGGAGATGTAAAGGTAGAGGAGAAG
Seq A exon
GTAATATTATTTATTTAAACATGAGGCTGTTTCAAGAAGCTTAGTTTGATTGCATGGCTCTGGAAATCTATGTCAATAATAAAGAAATGACCTTGAATTTTGTACGTAGTTAAAATAGGGATTGAGTTTATTTAAATGTTTGGAGATTCCAGTGTTGTTTATTAAATGCAATCTTACACATGCTGACCATCAGTTTCTGTGACATCTTAATCTCTGCCTTGCATGGTAAAAGAAAAGTATCATTCATTCTTCTAACTCTTCTCTTTAAAAGCCATTCTTCTAGTATAGTAGGTATTTTATTATATTATAGGCTATAAAAGAGCCTGTGGGTCATCTCTAAAGGTGGCATTGATGTGTTAGAGATTGTTTGACTTTCAGAGATATCCATGAGACTTATTTGAGTAATACAAGGCCATACATTATAGTGAGGATGCCCTAGCATCTTCTTAAAGTATAAATCATTTAAAATTTGGCTGGTACTTAAACTTTTAAAACTTGACAGTGTATATCAACAGGCCTAACATAATATTCAATATTCAAAAAGTTATCTTTATATTTAATTCCTTACTCCTGGGAATACTTTCCACATAATTTGTCACATTTTGGGGGTATGTAACAATTTTTCCAGTTTCTTAGTTTTTGACTATCTTTGAAGAAGTCTGTATGCTGTAAACATCAATAGCATGGGGTTTGATACTCTCTTTCCTGCCACTAGACTCTAATCTCACCTAAATGCAGAAAGCATGGTTTGCCTTCTAGATATGTGTTCTGTTTTCTCACTATCATCATCTACTCTGTTGTGTCCTCACTAACCTTGTCAATATACACGATATCAAGTTTTCAATTCACAGATGCATGTTGTTTTCAAAGCTTTTATCACATCCTGTGCTGTTGAATAGATCACTGACATAGATCACTTGTGCATTTGAACTGCCTAACATTCACAGCATTGCTGCGCCTTGGTAAGTAGAGGATTTTTATGTTGAAATGTATTATTTATTTTTTAAAAAACCTAAGTTGCATGAAACTCCGCCCACCCTTGTGTAACAGAGTGACCTGAGATTTTTGCATTTTCCTTTCAGCTGGATAAAGTGATTGCAGGCACCATTGATCAGACAACTGGAGAAGTCCTTTCAGTCTTTCAAGCAGTTTTAAGAGGCCTCATTGACTATGACACAGGAATTAGGTTGCTTGAGACACAGCTAATGATTTCTGGTCTAATTTCACCAGAATTAAGAAAGTGCTTTGACCTTAAAGATGCCAAAAGTCATGGCCTTATTGATGAACAAATTCTGTGCCAACTCAAAGAACTAAGTAAAGCTAAGGAGATTATTTCTGCTGCGTCACCTACCACAATTCCAGTACTGGATGCTCTAGCTCAAAGCATGATAACAGAATCCATGGCCATCAAAGTTCTTGAGATACTGCTTTCTACAGGCTCTCTGGTTATTCCAGCCACAGGAGAACAGTTGACCCTACAGAAGGCTTTCCAACAGAACTTGGTTTCCTCAGCATTATTTTCTAAAGTTCTGGAAAGGCAAAATATGTGCAAAGATCTTATTGACCCCTGCACCTCTGAGAAGGTTTCTTTAATAGATATGGTACAAAGAAGTACTTTACAGGAAAACACAGGGATGTGGCTTCTACCTGTGAGACCACAAGAAGGAGGTAGAATAACATTAAAATGTGGAAGAAACATAAGCATTTTAAGAGCAGCTCATGAAGGTCTCATAGACCGTGAAACCATGTTTAGGTTGTTAAGTGCACAGCTTCTTTCTGGAGGTCTGATCAATTCCAACTCTGGCCAAAGAATGACTGTTGAAGAAGCTGTCAGAGAAGGGGTGATTGACAGGGACACTGCTAGCAGTATCCTCACATATCAGGTTCAAACTGGTGGAATCATCCAGTCAAACCCTGCCAAGCGTTTAACTGTAGACGAAGCAGTACAGTGTGATTTAATAACTTCCAGCAGTGCTCTTCTGGTCCTGGAAGCTCAGCGAGGCTATGTTGGACTCATTTGGCCCCATTCTGGTGAAATATTTCCCACATCATCTTCCTTGCAGCAAGAATTGATTACAAATGAATTGGCCTACAAAATCCTGAATGGCAGACAAAAAATAGCTGCTCTTTATATTCCAGAAAGTTCTCAAGTCATTGGTTTGGATGCTGCTAAACAGCTAGGAATTATAGACAACAACACAGCATCAATTTTAAAAAATATAACACTGCCTGATAAAATGCCAGATTTAGGAGATTTAGAAGCTTGTAAAAATGCCAGAAGATGGCTCTCTTTTTGTAAATTTCAACCCTCCACAGTTCATGATTACAGACAAGAAGAGGATGTTTTTGATGGAGAAGAACCTGTCACTACTCAGACCTCAGAAGAAACTAAAAAATTATTTCTATCTTATTTAATGATAAATAGCTATATGGATGCAAACACAGGGCAAAGGCTTTTGCTGTACGATGGAGACTTGGATGAGGCTGTTGGCATGCTACTGGAAGGCTGTCATGCAGAATTTGATGGAAACACAGCCATAAAAGAATGTCTCGATGTCTTAAGCTCATCTGGTGTATTTCTTAATAATGCTTCAGGTAGAGAAAAGGATGAATGTACAGCTACACCAAGTAGTTTCAATAAATGTCACTGTGGAGAACCTGAACATGAAGAGACTCCTGAAAATAGAAAGTGTGCTATAGATGAAGAATTTAATGAAATGAGAAATACTGTTATCAATAGTGAATTTTCTCAGTCAGGAAAACTGGCAAGTACAATATCAATTGATCCTAAAGTTAACAGTTCACCCAGTGTGTGTGTTCCCAGTCTCATATCATATTTAACACAGACTGAACTTGCAGACATTAGCATGCTTAGAAGTGACTCTGAAAACATACTTACAAACTATGAAAATCAAAGCCGAGTGGAAACAAATGAACGTGCAAATGAATGTAGTCATTCTAAAAACATTCAAAACTTTCCAAGTGATTTAATAGAAAATCCTATTATGAAATCAAAAATGAGTAAATTCTGTGGTGTGAATGAAACAGAGAATGAAGATAATACAAACAGGGATTCACCTATCTTTGACTATTCCCCCAGGCTAAGTGCCTTGTTAAGTCATGATAAATTGATGCACAGTCAGGGAAGTTTTAATGATACACACACCCCAGAGAGCAATGGAAATAAGTGTGAAGCCCCAGCCTTATCATTCAGTGACAAAACCATGTTGTCAGGTCAAAGAATAGGAGAAAAATTTCAAGACCAGTTTCTGGGAATTGCAGCTATTAACATCAGTTTACCAGGAGAGCAGTATGGACAGAAATCTTTAAATATGATTTCTAGTAATCCTCAAGTACAATATCACAATGATAAATACATTTCAAATACTTCTGGTGAGGATGAAAAAACACATCCAGGTTTTCAGCAGATGCCTGAAGACAAGGAAGATGAGTCTGAAATAGAAGAGTATTCCTGTGCTGTGACTCCAGGGGGTGATACTGATAATGCCATTGTGTCTCTTACTTGTGCTACACCATTGCTTGATGAAACCATCAGTGCTAGTGACTATGAAACGTCACTGCTGAATGATCAGCAGAATAACACAGGAACAGACACTGATAGTGATGATGATTTTTATGATACTCCCTTGTTTGAAGATGATGACCATGATTCTTTGCTTCTTGATGGTGATGATCGTGATTGCCTGCACCCTGAGGACTACGACACACTGCAAGAGGAAAATGATGAGACGGCTTCTCCTGCTGATGTTTTTTATGATGTCTCAAAAGAGAATGAAAATTCCATGGTTCCCCAGGGGGCACCAGTTGGTAGCTTAAGTGTGAAGAACAAAGCACATTGTCTTCAGGATTTCCTTATGGATGTTGAGAAAGATGAATTAGATTCTGGTGAAAAAATACATTTAAATCCTGTTGGCTCAGATAAGGTGAATGGACAGTCACTGGAAACTGGATCAGAAAGGGAATGCACAAATATCCTTGAAGGTGATGAATCTGACTCATTGACTGATTATGATATTGTAGGAGGAAAAGAGAGCTTCACTGCATCATTAAAATTTGATGACAGTGGCAGTTGGAGAGGAAGAAAGGAAGAGTATGTAACTGGACAGGAATTTCACTCCGATACTGATCATTTAGATTCTATGCAAAGTGAAGAAAGTTATGGGGATTATATATATGACAGTAATGATCAGGATGACGATGATGATGATGGCATTGATGAAGAAGGAGGAGGTATAAGAGATGAGAATGGAAAGCCCAGGTGCCAAAATGTGGCTGAAGATATGGATATCCAGTTGTGTGCCTCTATTTTAAATGAAAACAGTGATGAAAATGAAAATATTAATACAATGATTCTTCTGGATAAAATGCACAGTTGTAGCTCTTTAGAAAAACAGCAAAGGGTAAATGTTGTACAGCTAGCATCACCTAGTGAAAATAACTTAGTTACTGAAAAAAGCAACCTTCCAGAATATACAACTGAGATTGCTGGAAAAAGCAAAGAAAATCTGTTGAACCATGAGATGGTACTTAAGGATGTATTGCCGCCTATCATTAAAGACACTGAATCTGAAAAAACTTTTGGCCCTGCAAGTATTTCACATGATAATAATAATATCAGTTCAACTTCTGAATTAGGTACTGATCTAGCAAACACAAAGGTTAAGTTGATTCAAGGGTCAGAATTGCCAGAATTGACTGATTCTGTGAAAGGTAAAGATGAATATTTTAAGAATATGACACCAAAAGTTGACTCATCTCTTGATCACATCATTTGTACTGAGCCTGATTTAATAGGAAAACCTGCTGAGGAAAGCCATTTGTCATTGATAGCCTCTGTAACTGACAAAGATCCTCAAGGAAATGGAAGCGATCTCATTAAAGGGAGAGATGGCAAAAGTGATATTCTAATAGAAGATGAAACATCAATTCAGAAAATGTACTTGGGTGAAGGAGAAGTGCTTGTAGAAGGTCTAGTAGAAGAAGAAAATAGGCATCTCAAACTTTTGCCTGGTAAAAATACAAGGGATAGTTTCAAGTTAATTAATAGTCAGTTTCCATTTCCACAAATCACAAACAATGAAGAACTTAATCAGAAAGGAAGCCTTAAAAAAGCAACTGTAACTCTTAAAGATGAACCAAATAATCTACAAATAATAGTTAGTAAAAGTCCTGTTCAGTTTGAGAATCTTGAAGAAATTTTTGACACATCAGTTTCCAAAGAGATTAGTGATGACATTACTTCAGACATTACATCGTGGGAAGGGAATACACATTTTGAGGAGTCATTCACTGATGGACCTGAGAAAGAGCTTGATCTGTTTACTTACTTAAAACATTGTGCTAAAAATATAAAAGCAAAAGATGTAGCCAAACCAAATGAAGATGTCCCAAGCCATGTTTTAATAACTGCCCCTCCCATGAAAGAACATTTACAATTAGGAGTTAATAATACAAAAGAGAAGTCCACTAGTACCCAAAAAGACTCACCTCTTAATGACATGATCCAAAGCAATGATCTTTGTAGTAAAGAAAGCATCTCAGGAGGAGGAACAGAAATTTCTCAGTTCACACCAGAAAGTATTGAAGCCACACTTTCAATATTATCTCGTAAACATGTAGAAGATGTTGGGAAAAATGATTTTCTGCAGTCGGAGCGGTGTGCAAATGGATTAGGAAATGATAACTCCAGTAACACTTTAAATACTGACTATTCATTCTTAGAAATTAATAATAAGAAAGAAAGAATTGAGCAACAGCTACCAAAAGAACAAGCCTTGTCTCCAAGATCCCAAGAAAAGGAGGTTCAGATTCCTGAATTGTCTCAGGTATTTGTGGAGGATGTAAAGGATATCTTAAAAAGCAGGTTGAAAGAAGGTCATATGAACCCTCAAGAGGTTGAAGAACCTTCAGCCTGTGCAGACACTAAAATTTTAATTCAAAATTTAATTAAAAGGATTACCACATCACAGTTGGTAAATGAGGCATCTACTGTGCCCAGCGACTCTCAAATGAGTGACTCTTCTGGAGTTTCCCCCATGACTAACTCATCAGAACTAAAGCCAGAAAGTAGAGATGATCCTTTCTGTATTGGAAATCTTAAGTCTGAGCTTCTCCTTAATATATTGAAGCAAGATCAACATAGCCAAAAAATTACAGGAGTATTTGAATTGATGAGAGAATTAACTCATATGGAGTATGACCTAGAGAAAAGAGGCATTACGTCTAAAGTACTTCCACTGCAGCTTGAAAATATTTTCTACAAACTGCTTGCTGATGGATATTCAGAGAAAATAGAACATGTTGGAGACTTTAATCAAAAAGCATGTTCTACATCTGAGATGATGGAAGAAAAGCCACATATTCTTGGTGATATTAAAAGCAAAGAAGGAAACTACTATTCTCCTAATTTAGAAACTGTAAAAGAAATTGGACTAGAAAGCTCTACTGTGTGGGCATCAACATTGCCAAGAGATGAGAAGCTCAAGGATCTGTGTAATGATTTCCCAAGCCATTTGGAATGTACTTCAGGGTCTAAAGAGATGGCTTCTGGAGATAGCTCAACCGAACAAGTAAGTTGACCTATACATTTTATACAGAAAAAGCTGCATGAACCATGTGAGAATAATCCCATACATTTGCTTTAAACATCTGCATAAAGGTTATTGAATTAAAATGTCCAACTTTGTTTTTAGTTTTCCAGTGAATTACAGCAGTGTTTACAGCACACTGAAAAAATGCATGAGTATTTGACATTGCTTCAAGATATGAAACCCCCCTTAGACAACCAGGAATCTCTGGATAACAACTTGGAAGCTTTGAAGAATCAACTTAGACAGTTGGAGGTAAGAATTGTCTACTGCCTCTTTATGGATGGTAGTCAGCTGATGTATGACTGGGAAAAAGAAGCAGAACACTTCTATGTTTCATGTTTATATTTGGGTTTTTCACTAAATAGTAAATAGGTCCGGGATATATTTCTTTGCAGACATTTGAATTGGGATTAGCTCCAATTGCTGTTATTTTAAGAAAAGATATGAAGTTGGCAGAAGAGTTTTTAAAGTCTCTTCCCAGTGACTTTCCCAGAGGCCATGTTGAAGAATTGAGTATTAGCCACCAGAGTTTGAAGACCGCCTTCTCTTCCCTCAGCAACGTGTCTTCAGAAAGAACGAAACAGATCATGCTTGCGATCGACTCTGAAATGGTAGGCATAAAATGTCAAAATTTTGATTTATGAAGAAAATTTTATTATTTGAGGATTTAGTCATAAGCTGGAGTATTTTAGTTTTAGAGTGCTAACTCTTAAACCACAGTCATTATTTGTAAGAATTTGACATTTTGGGGAAAGATAACTGAATGCACAATTTTTTTTTCTAGTCTAAACTAGCAGTTTCCCATGAAGAATTTCTGCATAAACTTAAGTCATTCTCAGATTGGGTATCAGAGAAGAGCAAATCTGTGAAGGATATTGAGATTGTGAATGTTCAAGATTCTGAGTATGTAAAGAAACGTTTGGAGTTTCTCAAGGCAAGTATCAAAACAAAGATGACAAAATATATTTCAAAAACTATGACTTTAATATATAACAAGTGTTTAGAAAATATGACTTTGCTAAGGCTACAAAGGATTATTTCCTTTCTTTGTCTCTAGAGATGTCTTTATTCATAGTTGACACAACTATAAAATAATCACAACTTTAAGGGTATCATTCTGATGCTATCCCAAAAGCCTTATCATACTCTTACACCACTGACATGTTGAGATTTTTATTTATATATTTATTTATGTGTTAGTCACATAAATATATAATAGTATGAATTAGCCATATAAAAATCATCATGTAAATACATAATAATATTTGTAGTACAGTCATGCATCACTTAATGATGGAGTTACATTCTGAGAAATGCATTGTTAGGTGATTTTGTGTTTTGCAAACAACAAGGAGTGTACTTACACAGACCTAGATGGCATCCTTTACTGCACACCTAGGCTATATGATATACCTGTTGCTCCTAGGCTACAAACCTCTACAGCATGTTACTGTACTGACTACTGTAGGCAATTGTGACACAGTGGTTTTTGTGTATCTAAACATAGAAAACGACAGGAAAAATAAGGCATTGTAATCTTATGGGACCAACATTTTATATGTGACCTGTCGTATGTGGCTCATGACTGTGTTTATATGTTGTCACTTTTGGCATACTTTTTTTTTTTTTTTCTAAGTTCTTAATTTCAACAGCATTCCTCATGAACAATGATTAGGCTTCTGGCCTGAGAGTCAGAAAACTGAAATTCTGGCATATTTCATTCATATTTCAAATCCCTCAAAGTATTATTTATATCTTACCACAATTACATGGATGTTGTAAATGTTAGCAAGTCATATTTTAAGGTAGATGTTTCTCTTCAGTGTGCTAAATATACCTAAGTTAGGTCTTTGCCTTTTGTCAGAGTTATATTTTAAGTGCAATGTGACAGGTAAAGATAAAACATTTTTAGAGGGATTATTTGTCTTTTTATATAATACTAACTACCATGGTATTTAAATAATTAATTTATCATTTATTACTAGATGATAAATAGATTTTTGATGAATAGCAAAAAAATTCATAAAACTTCCATTCCCTGATGTGAGAAATGTATTTACAAAACATAAATATTATTGTTAATATAAATTTTATCATGGCTTAACTTTCTACTGATAGCTTGTACTACTTTTTTAACAGAATGTATTAAAAGACCTTGGACATACCAAAATGCAGCTGGAGACTACTGCCTTTGATGTGCAGTTCTTCATTTCTGAATATGCACAGGATCTGTCTCCCAACCAAAGCAAACAACTGCTGAGGCTCTTAAATACAACTCAGAAGTGTTTTCTTGATGTACAGGAGTCAGTAACTACCCAGGTGGAACGTTTAGAGACTCAGTTACATCTAGAACAAGATCTTGATGATCAGAAGGTTTGCCTTTCTTCGTGGAGTTGGCATTCATTGTTTTTAGTGTGAAACCATAATGTAGATACCCAAGGAGTATAGTGTGACAGGAAAGATTTTCTGGAAAGGCATTAATGGATAAGATACAGTGTACATACAAATCCTACAGTGTATAACAATATTGTTTTCACTAATGATGCTATAATTTAGTTGATTTGAATTTTTGTGACTCCCAAAAATACTTAACTTCAAGTGAGAGTCTTGATTGCCTCCCACCCCAAGACTAGGAAATTTGAATGCACTTAGAAATTTAACACATTGAGGAACATATGACTAAAGAAGGTTAAGAGTTTCGTTTTCCTCTGGGAACCAATACAGCACAGCAATTCAGATCATGGGCTCTGGAGCTAGATTGCCTGATTTCACATCCCAGCTGCACTACTCATTCATTCTGTGAACTAGGGCAAGTTACTTAACCTCAGTTTAATCATTGGTAGATTGGAAATAACAATAGCGCTTACCTGCTAGTGTTGTGAGCATTGATAAAAAGAATGTATGTAAAACATTTAGTACCTTGCCTAGCATGTGTTAGGCTCTTAGTAAACGTGATCTATGGCTATAAGATGAATAATTAGTGTATACATAGTAGGAAAATGAAAGGTGCAAGTAATTAGTGTTGACTTCTTAATCTTTTAGAAGATTTAATGAATTATATGAGTGCTATATCTAATAGCAATAACGAGCAAAGAGGTGAGAATGCACTTAGACATAGTGATTAAGTAAAAATATTGCATGCAATGTTCCTTTTATTATTTCTTGAAGCACCAGACATTGTCTCTAGCATGATAACCTATATACACATATCAAATATGTTAACCTACAAATCACAACTAACTTCTCTTTTGATGTCCTTTTGCAGAATTAATTCTATGTGTCGCAGGTTTCAACAGCTTAAGAAAATGGGATGTTTCTTCCTGTTGGTCAGAAGTTCCATCTCTTACAAATATGCATGGCCAGTATTCTCTTGAGCAGTTTCATCTAAACATGATCACTTTCTTTGTATATGGGATATGCTCATATTTTCTGTCTCACCTTGCTCAGTTTGTACCCTACTGCTATCATGTTTACAGCATACTTATAAAAGCTTATTAGACAAAACTTGGAAAATGTGTTCTAATAAGAAGCTATCACAATAGCGATTTTGTGACCACCATACATTTAAGATGTTTTGGGTTTTCTTCACTTTAG
Seq C2 exon
ATTGTAGCAGAGCGTCAGCAGGAGTATAAAGAGAAACTCCAAGGGATATGTGATCTTCTTACCCAAACTGAAAACCGCCTAATTGGTCACCAAGAAGCCTTCATGATTGGAGATGGCACAGTTGAGTTAAAGAAATATCAGTCCAAGCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-DST:NM_015548:25
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.277 A=NA C2=0.065
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)