HsaINT0100448 @ hg38
Intron Retention
Gene
ENSG00000139793 | MBNL2
Description
muscleblind like splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:16746]
Coordinates
chr13:97343016-97347067:+
Coord C1 exon
chr13:97343016-97343216
Coord A exon
chr13:97343217-97346803
Coord C2 exon
chr13:97346804-97347067
Length
3587 bp
Sequences
Splice sites
5' ss Seq
GAGGTACTT
5' ss Score
7.82
3' ss Seq
GCTCTTCTTCCCTGTCTTAGGTA
3' ss Score
10.28
Exon sequences
Seq C1 exon
CCCACTTTCCCTGTAGGTCCCGCGATAGGGACAAATACGGCTATTAGCTTTGCTCCTTACCTAGCACCTGTAACCCCTGGAGTTGGGTTGGTCCCAACGGAAATTCTGCCCACCACGCCTGTTATTGTTCCCGGAAGTCCACCGGTCACTGTCCCGGGCTCAACTGCAACTCAGAAACTTCTCAGGACTGACAAACTGGAG
Seq A exon
GTACTTCAATTCTACTTGTGTTTTGACATGCATTTGTGGTAGAAATATACTTCTGTGTAAGTGATTGCTTGTAAGATATTAATTCAGTCTTGCAAAACAGCCATGTAAACACACACACACAAACTCACCTAAAACCCATGTATTCATAACTCTGTGGTTTGAAGTTAAGGCCAAGTATAAAGGAAATTAGTCTATGGAAAAGACTAGTTTTAACACAAAAATCAGCTGCATGGAATATGCGTTTAAGGGAAAAATATTAAACAATCAATGGAACAGTGACTCAATCATGATGCAGCCCATAGAGATGGCTCCAGGTCCTGAAGGCCTCCTCATGTCAAGGTGTAATCCTTGCAAGACCCTGGAAAGTTCTGGAAACTGGTGGATCAGGAGCCCAGCAACCAGGGCAGCCGAGGACACTCAGGGACACTGGTGGGAGTAAGTGGGACTACAACTATTTACCAATTGGTATGATCATATTTCAATGTCTCAAGAACAAGCATGGCTGCTCTAGTGTGTTCTGGCATATTAGTTCTGATTGTGTTGTTGCTAAACAGGGGAAATTGGAGGATGAGTAAATTTAGTTTTTTGTTTTGTTTGGTTTGGTTTTGAGACGTAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCTCTGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCGCCACCACGCCTGGCCAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCGTAAATTTAGTTATTAATTGAGATATTTTCTTTAACTTCAATTGTTCTATAACATTCAAGAAAACAAGTTCCTATATATAAAAAACATCGTTCTTAAGTTATGAATCAAACCAAACCTCCTGTACTTTGTTGGGTAAAATTTCTCTTTAATCAGAGCTGTAGAACTCATCTATGTATCTTACTGCTATATCCCTATGATATTCACTACAGCATTTCATAAGGGTGTATAAAGATTCTCATAGATTTTTCAGAGAGCTCCTTTAATTCCATTACTGATTAAAGGTGTTAGGTGATGCATCTGGTTAGGACGTACACAGTGCTTTCTGTTAGTGGGATTATTAGAGAATGTTCTTTCAATGTGCATTTGTTTAAATATTAACCCAATAAACCTTGAAGGCAATAAAATGTGGCTGCCTAATAACCTGTGCAAGTTTTAAAACTCAGAATTTCAAACTGCAAATATTTTAGAAGATATTTATTTTTTCACTTAGTTTCAATCTGGATGCCCAGATGAAGAGAATGGAAACTCTAATTGTTACTATTTTGAAAAGATCCAGCCTACCCTTGTCAATTACTGAATAGACCTTTCACAGGACTGGAAAAGTGTTTTGGGCTCCACCTGCTGGACCCACGGAGCTTTTGTGTTCAGTATGTGACTGTACTTTAGAAAACAAATTAAATCAGTGGAATTGGGAACAAATTGTCCTTCTCAACAGGGCTGGTAGACAAAGACATGTAAAAATGAATCACAATGATTTTAGCAGAGCGGCTTTTGGTTCATTTCAAACCAGGAATGAAGTCAGCTGCACACAAAGCACCTTGGTAGGAGCCTGATGGCTGGTCCACACCTATGATGCTATCAGACAGAAGTCATTCCATTGATGGAGGAAGGCTTGCTCAGAATCCGTGGGAACATCTTAGTGATTTATTTTGCGCATTTTATGAACTAAAGTTAGAATGTTGGCTAATATCCAAAGTAGGAGGAAACAATTAACAATCTGGTGATTTATGCTATCTACCTTCAAGCTGGCCTGGTCACTGGTCAGTGAAACAGTATTTCCTAAGTATGTCTGACTTCCACAATACTTGAATTTCATGTCAGGGGCCCTTCATATAACATCACTAATGATCAGCGTGATGATCATTTACATATCCACTTTGGAATTGGAGCCTAAAAATAAATAACTTACGATTCTACTCATAATTATTTCCTGCTAATATTTATGAGCAGAGAAGAATTATATAAGCAACATGCATATGTTATTTATGCTATTTTATGTTATCTATATGCAGGGCATAATTAAGAATACTCTTCAAATTCTAAAGAAATATTTTTTCATACAGTAAAATCTTGATCCACCAGAATTCTCAGGGGATAGAGAATCCTAGTTACTTGAGATTTCAGGATAATTTAGCATTAAAGAATTTTTAAAATAAACTATTTCCCTCCATTTTTCTTTCTCTATATCTCTTGCCGTATTTCTCTCCTTTTGTCTTTTTTTTCTTTTCTGTGCTGTCAAAAATAGTATAGTGACCTTAAAAATGAAAATTTTGGTGTCTTAGATATTGTTCTTCTGATTTATGATTATGTTATCTTTGTAGAGCAGGAGAGAAGGAGTGGGAAACAGGAGTGTTCAGATTCCCCCCACCCCACCCCACCCCACCCCCTTAGAGAGAGGAGGAACAAGTTTGTCGTCATTTTCTCTGATTCTTTTTGTACAGCTATGACCTGGTAGCTTGATATAGGTGAAATTATCCCTCCACACACACAAAAAAAAACCTATAGCATTGTCAGAATTGTCATACAAGTAGGTGATTGAAGATATAGAGAGAGGTAGATAGATTATAGGTGATTGACAGATTAAATAGATAGATTATAGGTAGGTAAGCAGGTATATAGATAGGTAGGTAACTAGATTAGATAGATGATTAATTAATTGATAGATTTTAGATAGATCAGTAGATGATAGATGATGGATGGCTGGATGGATAGATGATAGATGGATGAATGAATGGCTGGCTGGATGGACGGATAGATAGATGGTAGGTAGGTAGATAGATGATAGATAATATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTACCATTAAAAATAATGATAGATTAACAGATAATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGGTGGATGGATAGATAGATGGATAATAGATAATAGAGGGATAGATTGATAGATGATAGATAATAGATGATGGATGAATGAACAGGTGGATAGATGATTGGATAGATTGATTGATGGTAGATGATAGATGAAGGAATGGATGCATGGATAAATAGATAGATGATAGATATATGGATGGATGGATAGACAGACAGACAGATCGATAGACAGCTGCATAATATGCTACCCAGGGACAATGGAGGCCTTGTTGCTTTTCCTTTGTTATTTTAGCTGAACTGCAGATTTCGTATTATTTTCTCAATATAGATTTTCACCCTAGAAAAGGCGGTAAAACAAAACTCAAATGACTGTGTCAGAGATTGTGGTTACCTGGGCTCCGCATAATCAATCTTTTCTTGTCAGTGGTACATGAGCCACCATTGAAAGCGAGGCAGCCTCCGCTCCTCCCGCGGTGGCCGGGGCCGCAGGGGCGCCTGGGCTCAGGCTTGCCTCTGCAGCGCGGCTCTTCTTCCCTGTCTTAG
Seq C2 exon
GTATGCAGGGAGTTCCAGCGAGGAAACTGTGCCCGGGGAGAGACCGACTGCCGCTTTGCACACCCCGCAGACAGCACCATGATCGACACAAGTGACAACACCGTAACCGTTTGTATGGATTACATAAAGGGGCGTTGCATGAGGGAGAAATGCAAATATTTTCACCCTCCTGCACACTTGCAGGCCAAAATCAAAGCTGCGCAGCACCAAGCCAACCAAGCTGCGGTGGCCGCCCAGGCAGCCGCGGCCGCGGCCACAGTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793:ENST00000345429:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.744 A=NA C2=0.280
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PU(11.1=4.5)
A:
NA
C2:
PF0064219=zf-CCCH=PD(81.5=25.0)
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
- Autistic and control brains
- Pre-implantation embryo development