HsaINT0052493 @ hg38
Intron Retention
Gene
ENSG00000096696 | DSP
Description
desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052]
Coordinates
chr6:7579275-7586717:+
Coord C1 exon
chr6:7579275-7581569
Coord A exon
chr6:7581570-7582641
Coord C2 exon
chr6:7582642-7586717
Length
1072 bp
Sequences
Splice sites
5' ss Seq
GAGGTATTC
5' ss Score
6.35
3' ss Seq
TCTTTCTTCTTCAATTCCAGGCA
3' ss Score
10.54
Exon sequences
Seq C1 exon
CTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAG
Seq A exon
GTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAG
Seq C2 exon
GCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096696:ENST00000379802:23
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.404 A=NA C2=0.109
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0076914=ERM=WD(100=12.8),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.1),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.0),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGAACTGCGGAACCTGAGG
R:
ATTCAGCTCATCCTCCAGCCT
Band lengths:
348-1420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development