HsaINT0100450 @ hg19
Intron Retention
Gene
ENSG00000139793 | MBNL2
Description
muscleblind-like splicing regulator 2 [Source:HGNC Symbol;Acc:16746]
Coordinates
chr13:98009736-98017425:+
Coord C1 exon
chr13:98009736-98009889
Coord A exon
chr13:98009890-98017389
Coord C2 exon
chr13:98017390-98017425
Length
7500 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
CCACCATTGCATGACATCAGGGT
3' ss Score
3.57
Exon sequences
Seq C1 exon
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
Seq A exon
GTATGTGCCCTTACTGCCCTACGTCCTGTGCCCTTCTGGTCATGTGCTTTCTTCTCATTTCTCTAAGCTGTTTGGTGGCATCTAGTTTGCTTTTGAAGGTATAATACAGTTTGAAATTCATCGTTGTCCTAGCTATCTAAATGTATTTACCTTACTTTGAATGATAGCTAAAGACTGTTAGGATTCTAAAGCCAAATATTTGATAGATTGAAGAGACAGATTTAACCCATGAGAAACAGCAGTTAGGGCTTTTGGTTTCTTGTATTTGCACAAGCCCTGTAAAATTGTTTATGTAAATAAGACCTTTTATGTGTGACAATTGAAATTTGTCCTTAACTCTGAATGACCTAAAAATAGCAATTCCAGTAAATACTAACCATTTTTTTCTATTTCTATTCAGAGCACTAAAACAATGAGGCTATTCAAATTAAAGCAATTCTCTACTCATATTTTTATATTCATTCTATCTCTTTCTCCATCCTTCTCAACTTTCACCAAGTTCACAAGTATATAGAGCTCTTATCCTCAGTGTCTAAGCCAATGCCTGATACTATTACGTACGATGTGCATTAACTATGATTCCACTAAAAGATCCATTGTAATAGTCATAGAATCTTAGAGTTTAAAGGACTCTTAGTGATCTCCTCATCCAGCTGATTGTTTTACAGATGAGAAAACTGAGGCCCCCTAAATGAGAAGTGACTTTCCAAGGTGCCACAACTAATGAGAAAAAGAACTGAGTTTCCCTGTGACCAAACCCATTTACATCACATTCTACCACCTGGGCCCGCCTATATATACACATTCCACAGAGTTCTCCTGAAAAAAGAAAAAAGCAGATAAAAGTGAATTTTTAAATAACTGACCCCAAAAAGTCAGATAAAAGTAAAAAAACAAAAGTATAAATCATGTCATCCCTCCCCCATTTGCACCGACATCTCTAACCACAGACACACACACGCACACCATACGCAAAGATAGTCACCATAATTGACCATGTTTTTCACCTTTTAGTCAATGTTAGAAGCAAGGGGTAACTTAAGTCCTGGTGGGAAGACCATCCATTGAGTTCTTTGAAAGTCAACATTTTTCAGCCCACGATAGTGAAATGAAAGTAAATATAAATGAATAACAATTCTAACAAAAAGAGTTTTTTGATTCAAATCCATTAGTTTGAACTTTTCGAGCTTATTATCCATTTCCTTAAATCCCATAGCTTATCAGAGTTAACATCAGAGGGAGGTAAAATATTTCTGTGATATTCTTTGTATAAAATCTACACTTTGAAATGGATTAGTAACCTGTGAACAATACATATTTTAGTTAACATATAAATTATGTGAGCAAAGTGGTTTTCAGTGTTTTTTTCTTATTTTAGTTTTGAACCTGTCTTAAACTCACAGACTTGTAGAAGAAATCTCTAATTCAGTATTTATTAGGAGTTCACTTTTGCCCTATTACAGCCTTAATTAGTGACATCCCAGTGCTGTTACAGCATAGCAGTGTCTTAATATGTAATCTAATTGAAATAACACATTTGTAAAATAATTACTAGAAGGTAAACTTACGTTAATGTCCTGTGTGGTTTCTACAAAGTGTGTCATTGTAGACCTCTTGGCCACTAGATATTTTAAGATAAAAAAAAAAAAATTAAGGAAGAATATACTGAGGGGAAAAACGTAAAAGGAGAAGCCTGTTTCTGAAGAATGGATGTTACTGCCATTACCATGTCCTGGGAATACCTATGAAGCTCTGGTGCTAAGCCTGCCAAAAGAATCTGAAGCCCTCCAGCACATGTTTAACTCTCAAACCCAACAATGACTGATTTGTTAAATCACTGAAAGAATCATCACTTTAAAATGTTTCACCTTTTAAACATTTTAAAGCAAGGATAAACATTTCCAAAGCAAGGATAAACAACATCCCTTACGCAACGACCTGATTTTTGTTGATGAAATGTATCTCATGAAGGACCCATACGGCTACATTGGCTGCTGTGGTTGTGTACTTCCGCCCTCTGGTGGATTCTTTAAGAACAGCTTAAGTGTGTCTGGCAACCCTCAATACAGTGGGCTTTGGAAGCCAAAAAGTGGGTCCTAGCGCACCAATACAGTGACTAGAAGGGTTTCCATTTCTTACATGACATGAATATCAGAGTGAACAAGCATGTGGATCTAGTGTTCTGAAATGGTATTTCAACTGCTAAGAATTTTCACATTTCTCTTAAATGAGGAAAGAGAAAATAATTTTATTAAAAGGAAATTAAAATAATCTTTCTCCCGCTTAAACCCATACCAGGAATTTTATTGTTCATTTTAGCTTAAGTTTTTGCTTCTGATTTTCTTTCTTATAAACCCATTTTCAACTTTATTTCTAAAATGATAATGGTAATAATCAATCATTGTTCATCATTGTTGGTTTGAAACCTCTGCAAATCAAGTGAAGATGTTCAAAAATAATTATTATAACTTGGTACATAGAGGACCCATTACTTTTAAATGAACAGATTTTGATTTTTCTATAAATGTTTTACGTAAACATAAATATGAAACAAAAATAGCATTTTTGTTTTAACCATTCATAGTTAAAGCTTTTGATATGATACTAAAATTCTCCCATTGACACAATGTGAATTTGGATTTTAGGAATTCTGCCTCCAGGTTGCAAAGATATTAATATAAAATTTTATGCAAAATATGAGAGTCTTCTCCCAAACTATGCTAAGATAATTATTGCCCTGCTTGATGGCCTAGCACATTTGCCATGGGTGGGAGTTTTCTTTTTTTTTCTTTTTTCATTGGGATTATTTTAACCAAGTAGTTAGACTTTTTCTTTTCTATGTTAGGAAAGTGGCAAAACCACACACACTTACAAAAATAGCAGCATAATAATTCTTGGCATTTCTCTGACAGGTTTATTCTAAGTTACTGTAAGTGTTCTTATAGACATTATCTCATTATTCTTCAAGATGTTGCAGTTCTGTTAGTGGCAGGCACGGTTATTTGCATTTTGCAGATGGAAAAACTGAGGCTGTGTCTACACCGCAAAGTGGAACTACCCAGATAATTCTGGCTCACAGATACGACAGCTGAAATATTTGTGCAACTGAAGCAGAAAACATTTGAGAAGTCTTTGTTCATAGAATTGGTGCCTAGTGAAGTGCTTCAGCTGATCAGAACAAAGGCAACCCACAGAAGCCTTCCTTGATTTATTTCATTATACTGGAAGTACAGAATAAGTAGAACAGGGGACAGTGCCCAGATACAGCCTAATTATGAGAAACGTGTAAATGTTACATCAGATTATCACATGACTTGGTGAAAGATTGATCAGTGTTTAGTGGCATCTGTATCTGCATAAGCACAACAAAATTTATTCCATTCAATTCATTAAAACATACCTTGAACCCGTGGTATGTTCTGGGTTCCAGAGCCAGTAATGAGAATACAAAAGAGTTCATAAAGAGGTGAAAACCAAATATTATACAGAGGATGAAGGAGTACCTGAGGGTCTGGGCAAAGCTATTCGAGAGTGAAGGAGAGGAGACAATGAATTCTGCCTTCAGCATGTGCACCAGGTGGTGGTTACGAAGGATATGGAGAAACAAGACTTTCTGAAGTAGGAGAAATTTGCCTAGGAGTTTGAAGAGAAGCAAGATTTTATCAGTGGGGGAAAAGCATCCCAGTTGGGACATGGGAAGAGTGTACTTGAAGAATAGAAAATTGTCCATTGTAGCTATAACATGAAGTACATACAGGGTATATGCAGAGAGTAGAGGATGGGAGTGTTGTACAAAGGCAGAGATGGGGCTTGCTAAGAAGATCAGGACCAGAATCTGGCATTAAGGGAGCCACACATGCATAAGTTATGCATTTCCAATATCACATCACTATTAGGCCACTTAGAGAGAGAGGCTCATGGAATTAATTTGGTTAAGGATTTCAGCCACATCCAGGACTGAAGCCAAAGTAACATGACTGATCCTAGCCCAGTGTGGCTACAGGAGCTGTGGATTATTTGCAATCCCAATGATATTCACATGCATGGCACAGCAAAGCTCTCCAAGACACCCCCCTCCACACTGGAATGAAAGAAAAATAAGAGCGGATTTTTATAGGCGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGGTTCTCTTGCCTCAGCCTTCCAAGTAGCTGGGGTTACAAGCGTCTGCCATCACACCTGGCTAATTTTTTTTGTATTTTTCGTAGAGACAGGATTTTACCATCTTGGCCAGACTGGTCTTGATCTCCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATTTTTTTATGAGTACAAGTTGAGTGCCCCTTGATCCAAAATGCTTGGGACCAGAAATATTTCAGATTTTGGATTTTTTTTTCAGATTTTGGAATATTTGGATTACATTAACAGTTGAGCATCCCATATTTGAAAATCTGAAATCTGAAATGCTCCAAGAAGGATTTTCTTTGAGGGGTATGTCAGCACTCAAAAAGTTTTGGATTTTAGAGCATTTTGGATTTGGATTTTCAGACCTGGAATGCTCAACCTGTACTATGAATGAAAAAGTAGAGTTCAGTGAGATTAAAAATAGAAACTGACTTGATGGCATGGGGAGGTAGGTAAAATAACAATTGAGCATTTTCTAAAGAAGTGACATATACCCTGAGATCTGGAAGATGAAAAGAGTGGGGTGAAGATTATTCTAGGCCAAGGGGACAGCTTGTGGGAAGTTCAAAAATAGGGCAAATGTGTAATGTGTTCAGTTCAAAGAAAAGAAAAATTAATCTGTCTGGAGCATGGTGCCAGGGAGGTGTAAGATGGCCTGGGGAGGTAGTCAGAGACTAGACCACACGGGACCTTTATCCTAAAAGCAATGAGAAACCACTGAATGGTTTCCAGCAGAGGAGTGGCCAGGCCTGCATTTGGAAAGATCTACTCTGCCAGAAGCTGGAGAATGAACTAAGGAGGGACGAGAATGGAAGCAGGAAGACCACTTAGGATGTTATCACATAGCCAGCCTAGAGATAATAGTGACCAGGACTTCAGATGTGGCAGTAGTGATGGATGAACAGATGAATGCAAGCTGCATGCTAGAAGCAGGATTGCTTTGGCTGATTGGTCAGCTGGACCCAGGAAGTTCACAAGGGGAAGGGGTGTGAGGCATAACTTTCAGTTCGGTCTAGAGTTCTAGTTAGATGGTGATGCCCATCAGGCATCTTCTGAGGTGTAGAAAGTTTCTCCCATCCAAGTACTAACCAGGCCCAACCCTGCTTAGCTTCCGAGATCAGACAAGATCTGGCGCCTTCAGGGTAGTATGGCCATAGACCGAGGTGTAGAAAGTTTCTGTGAGAAAGATCAAAGTTTGTCCCTGTTACATTTGAGACACTTATGAGACATCCAAGCAGAGAGGTGAGGAGGGCAGTTAGAGGAAAGGACCTGGAACTCTGAGAAGAGATCTGCGTGGGATACACAAACATGGAAGCTCCTGGAATCCAAACCCATGAAGTGAATGATACACCACAGGAAATGTAGCGTAGATGAAAAGGACCCAAGACTGAGTCCTGAGGAACTCCAGCATAGAGAGGGTGAGGGAAGGAAGATCGTTCAGCAAAGTAGACAAAGGGAGTTGCCAGAAAGAAAAACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATCAAAAATCTAAGGGAAGAAAGTGGCTTCCGATGGAGGGAAGGGCGGAGTGCTGAATGCTGCTGAGAATTAGGAACAGTGAGATGAGGACAGGAGAGTTCCTGCTGGCTGCAGCAATATGGGATTTTTCTGTGGATTGGCATTCACAATTTAAGTGCAAAGGTCAAATGAAAGCCAAATTGAAGAGGAATGAAGACTCAGTAGGGATAGGGAAGTAAACATTTATGTGTAGGTAGATTTCCAGAAGTTTGATTGTGAAGATGAGAGAATAGGGCTGGAGAAAGGTTTAAGTTGGATGTATTGGCACACATTTGTTGAAGAATCTGGCAGTAGCCCAGTTAAATAGCCCCCTCCTGACTAGGTCATGTTAGCTTGATCGAAATGTAGTTCAGGCAAAAAGTCGCCCTCCAGCGTGAACAGCTCCACAGAGAGAATAAAGACCTACACATCTCAAATTCTCCAACTAATATCTCAGAAGTCAGTTCTGAAACTCTAAGAGGGCACTCCTACATTTACGAGAAACTACTTCTCAGGCACCTACATGACACCCAGTCTTCAGTGATCTAAATCCATGTATTACCTTGTTTTTCATGGAACTGAACCAGTAGCAGATAATTCCTCAAAGCTTTCAATACAGCTTTCTTTCAGTTCTCCACAACATGCCTGAATATAATATTCATGGTCAGAGTCATGATGCGTGTATGTTATTATGACCACCACAAGTAAGACAGCTATTTCTAAGAAAGGGTTGAAATTGCCCCTCCCACCTCCTACCTCCCCACTCAGATGCCAACTTGAGATTTCCTAGGAGTTTTGCCAGAAATCCCCCTCAGGGATCACTTTGTAGTAGTCATGACCAAATTCCTTAGCCCTGGTCCTAACTCAGCCCCAACTCTGCACTATTTTGCTCTACAGTGTTTAAGCTTTATTGCCAGGCACTACTCCTTTATCATAATGAATCTTACAACAGAGAGAAGACCACGTACTCATACAGGTCATTCCCTGTAAGAACCTCAGTCTTCTTAGGTTATTGGGCTTTCAAGCAGCAATCTAAAATTCACCCATCCTGCCCTGCAAGCTTCTGATTTGGAGAATATCTTAAATCTTAAACACTGTTATTTTCATACCGTTGGTGACACAAAACATTTACAGTCAAACAAACAAGTAAACGTTTAATGCAGTAAGTTCAGTGTATTCTAGTGAATATAAAAGTTGACCTGGATTTACGAAGAGAATTCTATTTCTAGCCTTCCCCTTGACCCACACCATGCATGGCCTTGGAGGAGTTACTATGCCTCAGATTTTTCATCTGTAAAATACCTACTTCCTACCTTGGAGGATTAACTTGATAATGTCTGTAAAATACTTTGAGGTCTTAGAGGAAGGACACCACGGCATTATCACATGTCATTCTTATTAGAATCATGTCGATGCATATGAATAGAAAGTGTGAACAGTGGTCTAAGGAGTGAGCTTGGAATAATACTGGCTTAAAATAAGTCAGATATATTTGTGTCTGTACTGACAATGTGAATGGCCCTAAAAGACTGTGTTAACTAACCCTACTTATTTCTGGTTGTGCTTCAATCTCACTTTGAATGTTAACTCTAAACCGCTAACCTGTTTCTTTCCCTTTATTCACTTTTTCCACCCACCATTGCATGACATCAG
Seq C2 exon
GGTCAGTTTTGTGCATGACACCCGCTACCAGTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-MBNL2:NM_144778:6
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.567 A=NA C2=0.269
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
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)