HsaINT0100390 @ hg38
Intron Retention
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148485742-148490594:+
Coord C1 exon
chr2:148485742-148485950
Coord A exon
chr2:148485951-148489385
Coord C2 exon
chr2:148489386-148490594
Length
3435 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTC
5' ss Score
7.04
3' ss Seq
TTCCTGTCTATTTCTTCAAGGTG
3' ss Score
8.49
Exon sequences
Seq C1 exon
GTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGATGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACAATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAG
Seq A exon
GTACTCTCCTCTGCTGTGTCATTTTAGAAGAAAACAATGTCTGAGTTTGTTTAAATACTTAATTTGGGGGAAAGGGTGAAAAAAGTAGGTTACGTGCCCTTTCACCTCTATTTACTGTTATTTCTCAGTCATGAGTATTGTTAAACATTCCAGTCTTTTGTGTGAAGGTTTTCTTTTTTTAATTTTGTCTGAAGTATCTCAGCAGTTCTTTTGGAGCTGTTAGTAAAAACTGATCGTGTGACCCTCATAAGCCCTTTTGTCATTTATCATTGTTCTCATGACTGAGACTCACCTCCCTTGCATGCCCACCTGTCCACCCTCTCCAGCCTCAGCTCTCACCACTCTTCCCCTGGCTTCAGCCACATGGTATTTCTTTAGTTCCACAAAGTGAATAAATTCCTGCTAGGTTAAGGAGGTAGGTGGAAAGGGTAACACTAAATCCACATAGGGAGAAAATATGGGCTTTTTAAAAATAATCTTGGGGTAGAGAAGGCTCTTTCAGCATGACAGAAAACCAAGGCAGTCAAAAGGAAAAGTAACAAATTTGAATAGATAAAAATTTAAAATCTCTGTATGATCAAGCATATTCTAAACAAAGCTAAAGACAAATGACAACCTGGCAGAAAATATTTTCCTAATACATATTAAATAATTAACACCTACAACATAAAAAGAGCTCCTACAAATCAGGAAGAAAAAGGACAATTGATTAGAAAAAAATTAGCAATAGATATGAACAGACAATTCACAGAAATTGAAAGATAAAGTATTAAAAAACATGAAAATAACAATCAGAGTTACATAAATTATCACACTAATGTGTCCATCAGATTGATGATACCCACTGCTGACAAGGGTGCAGGGAAATAGATTCACTCAGATTACTGTTGGTCTGATTATATGCTGATACAGTCCTTTTGGAGGGTAATTTGATAGCATATCAGATTTTTTAAATATCTTTTGACCAGAAGCTCAGCTTCTGTGTATTAATATCTCATTTTAGAGAAATCTTCAAATGTGAACAAACAAGCACATATCAAAATGTTCAGTGCAATATAATTTGAGGTGTCAAAAATTATGAACCACTCCATCAGTAGGGAAATAGTTAAGTATATTATGGTACAGTATATCCATCTACCTGGTGGTTTAGAAAATTAGGTAGACTTACATAATCTGATATGGAAAGATCTGTAAGACTGCAAGACTCCAGTGCTATAGTATTGCAGAACAGTACTTTTAAATCTGGAAGCTGTAAATATAATCATACGCTAAAGGAAAGACCCAGAAAAGGGGAACATCTTTATGTTCAAGGGATAATAAATAAGGCAGGATTCCTGAGGAGGGGGTGTGGGATCCAGAATCTAGGACCATCCCATTTAGGTTGAAAGAAAGAAGGAGGGGAGCAAGGAAGGGAGGTAAGAATGATGCACTCCAGTGCTGGTTAGTTCTAAGAAAGGAAATAGGACTGGAGTTTAGGGTAAGAAACTGAGTTTCAGCGAGAAGTAATGATGAAGAAAACTTGTATCTTTATGATAATATATATATCTTCCATAGTAAAATAATTTAGAAAGGAAGAGGAAGTGCTCAACCGTGTCACTGAGAAAAAAGGTAAGATAAAGCCTGAAGAGAATCCATTAGATTTAGCAATTAGGACATCATCAGTGACTTAGTGGAATGCAGTTTTGCTGGAGTGGTGAGAGCAGGAGCCAGATGGCAAAATGGAGGAACAGTGAATAGGAGGTTAGGAATTAAAGAGTATAGATTAAAGAAGTAGATTTTAGCTGTTCTTGACACACACACACACACTACTATATGAGATGATAGGCTAATTTGTTTCACTCTAGTAACAACTTTACCATCTGTATACGTATTCCATAACATCATGGTGTTAACTTCAAATACACACAACAAAATTTATTTCTGAAAAAAACTTAACTTTGAAGAATGTAAGAGAAATAGGGCAGTGCCCCAGCAGGGGGTCGGGGGTAGGATGAATGCAAACTTTAAAATATGTAAGCCATGAACATAGTCATGTGCTATAGGAAAGACCCAGAAAAGTGGAAGAGATTGAACATAAAGAAGGGAAGGTATAATAAATAAGACAGGATCCTTGAGGAAGGGGCTTGGGATTCAGAACATAAGTGGAGGGCACACCCTCAGAGAGCAGAAGGGACCCCTCATGTGGGAAGCAGGACAGAATTTAGGACGGGTATAGTTGCAGAGAAGTCTGCTGCCAGGGGGCAGGGAGTATCAGAGTATAAGAAATTGTGAGAATTCTTGCCTGATGGGCTTTATTTTCTCATTACGTAAGATCATCTACTAAGAATAGTCTCGGAGATGGTGAAGAAGTTGGTGAATATTTGAATAGTTGTGGAAATGATTGATAACTAACTAGAAGATCTAGGATTGATGGGCAGCAATAAGCCCTCAACTGAGGTTGGAAGCTACAAATTCCTATAGACAAATATCAGCATCCTCACTGTAGATGTAGATAAGGCAGGCAGTTGAATTGATCCAAGATTGGGATTTTGCCTGGTAAATGTAGACAGGGTGATAATAGCAAGAGAGAGGCTGATGTGTCGACAGATCCCAGGTTCTGGATTAGCAGGGAAGGATGTAAAGAAAGAGAGAGATCATTGTGGAAAAAAATCTGAAAGTTCAAAGTATCAAGGGTCTAGAGCAGTAATTCTTAGATGGTGCGGGGGTGGGGGGTGGGGGGTAAAATTAGAATTACCTTGGGCACTTTTTCAAACTGCCCTCATCCTTCCTATACTGGAATTCTGATATGCTCCCCTGGTAAGTATGCTCTCCTTCCACCACTTTCCAATTGAGAATCACTTCTGCAAACAGCCATTGTCACTATTGACAGCATGGGGATGTGGCCTGAAAAGGTTGAGGAGCAGGTATTACTACCCCATCTGAAAACTAGTGTCATGTTATTATTAAGAAAGGAGTTTATATGTTTTTTTAAAATTTTATATTGTATTTCACTTAGTTAAGTGGAAACATCAGTGAGTTAGAAATCATTTTCAAAATCTTTCTCCTTTGCTAATTTGATTACCTGTGACTTGACTCTTTTTGAATCCTAAATTGCAAAGACCTGTAATGACACTAAATAAATGGAGTCATCCCAACCTGAGTACGTTTTCTGTCCAGCCACTTCAAGTTTAATTTTTCTAGAGAATGTTTCGCAGTGATGATTTTTAAAAATCTGTTGAATGATTTTAATCAAAGAAACAGCATGCAAATATAATCAAGACATAAGCTTTCCTATACAAAGTGACTTTTTATTTCATTTTTTGAGTCTTGTTCTTTATATTTCCTTCCTTGTTAATATTTGTTTGTCTTTTGGTAAATTTTAAAATTATAGTCTTTCTCTTTGAGGCCTCAAAATTATTTCCCTTTCTCTCACTGCTTCCTGTCTATTTCTTCAAG
Seq C2 exon
GTGAGAATGCAGGAAGATGCAGCTCTCCTAAACAAAAGAATAAGCACTCAGCCTGGGCTCACAGCACTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTGCAACCGAGGATTGACCCATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATGCCATTTACAAAGCAGTTGTCGATGCAGCCAGCAAAGGAATGCAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCTCTGAGTGCCATGAGTGCCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTCAGTGCGGTCATTCATGGACGGAACATGGGAGGTGTTGATCATGATGGTAGGCTGAGGAATTCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGAGATGGGTTTGAATATTTCAAGTCAGCAAGTTGCCACACATCCAAAAAACAGTGGGACGGGGAGCAAAGCCCCAGAGGGGAGCGAAACAGGTGGAAGTACGAGGAATTTTTAGATCATCCAGGCCATATCCACAGTAGTCCTTGTCATGAAAGGCCCAACAATGTCTCTACACTGCCATTTCTGCCTGGGGAACAGCACCCAATACTGTTACCACCAAGAAACTGTCCAGGGGATAAAATTCTAGAGGAAAATTTCAGGTATAATAACTACAAAAGAACTATGATGAGTTTTAAGGAGAGACTAGAGAACACTGTGGAAAGATGTGCACACATAAATGGGAATAGACCTCGACAGAGTCGGGGATTTGGAGAGCTGCTAAGCACTGCAAAGCAAGACCTGGTCCTAGAGGAGCAGTCTCCAAGTTCCTCAAATAGTTTGGAAAATTCTCTGGTCAAAGACTACATCCATTACAATGGAGACTTTAATGCCAAAAGCGTTAATGGGTGTGTGCCTAGCCCTTCAGATGCTAAAAGCATTAGTAGTGAAGATGACCTAAGGAACCCAGACTCCCCCTCTTCAAATGAATTGATACATTATAGACCAAGGACGTTCAATGTTGGCGACTTGGTCTGGGGCCAAATCAAAGGACTGACTTCCTGGCCTGGAAAATTAGTAAGAGAAGACGACGTTCACAATTCATGTCAACAAAGCCCCGAGGAAGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406:ENST00000407073:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.566 A=NA C2=0.523
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0085512=PWWP=PU(46.3=9.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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