HsaINT0100392 @ hg38
Intron Retention
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148502436-148510135:+
Coord C1 exon
chr2:148502436-148502509
Coord A exon
chr2:148502510-148510059
Coord C2 exon
chr2:148510060-148510135
Length
7550 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGC
5' ss Score
7.31
3' ss Seq
GTTGTTTTCATTAATTCCAGAAG
3' ss Score
6.17
Exon sequences
Seq C1 exon
GTGGAGCCCGAGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTCCGGAAAAGGAACAGAAA
Seq A exon
GTAAGCACTTTTCCAAAATTTTACTTTGTTTTTCCAGGATATAATTTACTGTTTTTCCATCAAAGGGACAATGAAATCTCACTGATTCTGTCCACGCTGTGGCCTGCCTAAGTGAAGTTTGTTACCACCAAAGAGGACCATTATAGACAAGCCAAATTAGTGATTATGGAAAATATCCTCTTAACATTTTATGTTTACACTATGTGTAATATTTGCCTCTTCATCTGTTCTTTCTTCATTCCCTGCATCTTCATTCCTCTCATTTAGTGGAAAATAAAATATAATTAATATTCTCAACATATAGCAATTAAATAGGCTCTGGAAGTGTAGTGAATCAATCCATTTGCAATTCAAATACTTTGGGGAGTAAATACCCCTCGTTGTACACATGTAAATAATTTTGGCAGATTACTAGTCAAAGTGATGCTAAATAAAGATTTTTTTTGTTGCATCAGGGATGTGGACTTAAAAGTAAGTTTTCTTTGGAATTACAACAAGAAGTTGAATTTCAGGCCAGTATTATTCAAGTTTTTCTAAATCTTTATTTTCTGAGTAAATGTAGTACGGACAAGCAGATAATATTAGAAACATAGTTTTTACTGTGATACAATGTATGTTTATGTATCATAACTATTATTTCATATTAAGGTAGAAAACTACAAATGTGCTTCTCTATATGTACATAGCTATTTAAACATATGTAATTGATATGCCTGTTCAGTTGCCATACTAATTTCTGCATTATCAAGCAACCAAAAATTATATATTAGTTAATTTTTATTCATTTGCAAAATGATCCTCACATTTCCCCCCAAATATTGACACATAGGCTTAATGTGTATATGTATTGTCGTCTTTCTAAAAATACCATTTTAACTTCTGTTTGTACATCAAGACTTACAAAGTGGAGATCAGAATGATTCGTAGTGTATCTTGCATAGAAGGCTTATATAATGATATCAGTAATATCTATTAAAAAGCATTCTCTTTCACTTTATGGTGTTTCCCATAATTCTGGCCAGAGGCATAATTTTAGAAGTCAACAAATCTTAGGAAGACTCTTCACCTCAATAAAAGGTATCTGAAAAGATGACAGCTGCAAGGGGCAAACTCCTATGTCTCTATGTCCCGGACTCCTTTAAAAGGTAGCAAATTGGTACTGGCTGTGTGAAAGGCCAAGTTAATTGCCGGATAACATCCCTCTAGACCTGATAAGGAAAACAGGGATCAAGGTCCCTTCTACTCTTACTGAAGCACACTTGCTATGCAGAGCTTAGCAACAAGATAAGGCCACTAAAATTAATACAAGGTCTGGATAAAAGAAGGAAAATTGCAAATTACCTACACCACAAATTTGCAGTGGGCCAGTTGCTGTAAACTATTCAACAGTACCCATTTCTTTGGTGTAAAGGAGCCCTGAAAATGTTTCCTACAGTGAAACATGCCAGTTACTTGGATTATGTACAAAATAAAGTTAATAACAGAAATAAAATAACTCCTCCAAATATTCAAATACACTGCCTTGAAATGAGCTGTATTTTCCCCATGTATTTGCTATTAAGCAATTTCTGAAAGGTAATGAAAAACAAACTACAATTTTAAAAATGTTTCTTCAAAGCCAATTTCCTATTTGTAGTAAATTAATGTGAGAGCTATCTAAAGGAATTCTCCTCATGATAACCATAAACTTAAAGTACAGTTTGGAGAAGTAAAAGTAGAAAATACAAAACTAACATTTATAAAAAGAACTTTATTTACCATACTATTGTCTAAGCAGACAGACTTTCCTTTTCGATGCCCAGTAGAATGCTTTACATTTTGCACATGTAATTGCAAATTCATCATTTTATTCTCCCAGTCACGAGATGGGTCAAAATTACTGAGCCATTTGCAGATGCGGACACTCAGACTCAAACACTTTAAATAATTAGTTGAAAGTCCCACAACTGATAAATTATATGTTGAACCAAATCATTTTTTAATTTATGCATTTATTCCCAATTTAAGAAGACAAATTTAGCAAAAAAAATCTGTGCCAGGAACAGTGCTACAGTCCCTGAAGCTCACTGTTTAGTGAAAGAGACAGATGCAGAAACAAGTAATTCAAATGTCAAAATTGCAACAACAGCAATATATATACTATATTTTTGGGTCACAGGGAAAAGGCAGGTAAAGGAAGGGTTCCTAGAGGAGAAGATATGTGGGCCAAGCCTTAAACACTACATAGGCATCAGCCACACAAAGGAAACAAAGACGAAGATGGGGTGGGATAGTGTTTAGATGAGAGCAGCAGTTGGATTTGGGGGACTGTAAAGTATCGGATGGGAAGATATAAGAGGTATAAGCGGGAACCAGATCATGAAGGGCCTAGTAAGGACCAATAGGATGTTTTATTGTTTTGGAAGTGCCTAAAGGGGGCAGGTGGTCAGATTTTTCACCTTAGGTATGGCCGTGTACAAGGACAATTTTAAGGCAACAATATTGAAGATGAAGAGATTGTTCAGGAGCCATGGCAGAATACAAGGGAGAACGAGGACCCAAACCAGGAGCTGGTGGAGTTGGGGATGAGGATGGAAAAGAAGGAATGTGGTCAAGAAATACTTAGGAGGTAAAATAGACAGAACATGGGGTGATTGATCAGAATGTAAAGGAAAGGGAACAAAATCAAGGACAGCTCTCAGGTTTTCAGCTTGGGAGACTTGGTAGGTTGTAGAAACACTGACTGAAGTGGAGGTTACAGGGGGAAGCTGTTCAGTACAGTTTGGGGTGCCTGTAGGATAGGCTGGACATACGTGTCTGAAACTGGGGAGAAGTGGTATTTGACAGTATACAAATGACTGCAGTCACACAAAGATACTTTGACCAATTTGAAGAATAGTAGGCTAAGGATTGAACATGCAATAGAATGAAGAAGATGGGAAGAATGGTCAGTGAGGAGGAGGAGAATCAGGGAAAGTAGACAGAGTCTCAGAAGTCAAAGACTGATAAAATGATCAACAGAGGTGCAGTAAGACAAGAACTGAAAAATCCCCATCAGATTGGGCAATTTGAAGGTCACTGGTAAACTTCAGTGAGAACAGTTTCCAGTAGAGTGATGGGTATACACACAAAATGGCTATTAAATAAGAATAAGGAAATAGGGAGAGGAGATGTAGATTATTTACTCTTCTTTCTACCCATAATGTGAAAAATTCCTGAAAAATAACGAAGAAAGAATTTTTAAAATGACAAAGATTTGACTACTTTTGTAGACTGAGGGGAAGAAGAAAAGAGGAAAAGGCTGAAAAAGGAAGGTGTCATTTGGAGCAAGATAATTAAGAGGTTGGTTTTTCACCTGGACTCAAGTCCTGTTTCTACCACTTCATAGCTGTGTGTTCGTAATCTCCCTGGGCCTAAATTCTTCATTTCTAAAATGGGCATAATCCTATTTTAGGATTGTTATAACATAGATAATATAGAGAGAGCCTCAGCACAGTACTTGGCACATGGCATTTAGTAAATAGCTATTTTTCTTATAAAGATACAGGTGAAAGAAAGAAAATTATCTGTTATTTTTGCCAGTTGAAACATTCTACCACCATATTAGATGTTTGGTATTTTATATAGTCATTTTAATCCTCAGTATCCTCAATCAAACTGTACAACAAATAAATATCTTTAAACATATGTTCTAATTATATCCTAGTAGTAACATATTTATTTAATACATTACTTAGGGCAATTTTGTACTTAAAAGCAGAAATAGCTTTATTAAAGAAAAATTCCACAGCTTTTACATATGTTATAGTTTTCATTTAAGCGAGGAGCAAATCTTCTGTCTATATGTACGTATACATTTCTTGGGAAACCTGATTTTTTGTGAAGCTGGAAAACAATAAAGTGATTAAGTAAATCACATTTTCACTTTAAAACCAAGGAATGATACTTACCATGTTAAATTTCCTGAGATCTGCATACATTCCCCATGGATTCAGTTTCAGAGCTCAGGGTTTTTGACTTTTAGGTCTCACCCAAATTTGTTACATACTGTATGAAGTGAGTCACTTAAACTCTGAACTGACAGTGTAGAACAACTTGCAATTTCTCATTTCCCTTCTATTTCTTGTACTACTCATAGAGGTGTACCTGGCTTTTTAAAAAATTAGTGAAGATAAAGATAATGTGTGACAGTGTAGGCAATGAAGTTGAGAAGTGGCAATTATCTCCATTAATAATTAGAAATGTGATTATATGAACATCTATTACTTAATCAAGTAGGTTTTAGAGTGTCCATTAGTAAAAATGTTTATTATTAAATGTCAGCAGGGAATAGAAAATAGTAGAAGAAACTCCACAGGGAGGCCCTCTGGACTGAAAGACTGAATTTTGACTAATTGTTCATTTCTTGAATTCATAGAGCTTTTTCTTCCTCTTTTAAGTTCATTCTTCCCTGACCTGACCAGTAGCTGGTCTGCAGATATGACATCTGGGAGAGTCTCTCTTTACCTCTCAAATCTCATGATATATACAAATAATTTCATGCCCCACATCTATGTATTTATTTTCTCTTCCAAAAGTAGTCATTTCTCCCTCTATTAACTACTAAGTTGTGTTAAAGGTGAAACATTATACTAATTTAGCTTGAATTAATGCAAGGTGTTTACAAATATTTTAAATATCTTGAAGAATGAGATGACAAAACTCATGAAATTGTTTTTTCCAACAAGTAATGCTGAATCGTTTTTGTGCTTGAATGGTAATTGTTATTGCAATTTTTCATGGTTAGGTAAAAATCTTTTACCCATGACTATCACTTTTGAAAACTATAGTCAAATATCCATTTTCTTCATTACAAAATTAGAATTAATTTCACCAATTCTTAAAAAGTCATGAAGTATCACATACAAACAGTTGTCATAATACCTATTCCATCAAATTATTGTAAGGATTAAATGAGATAATGTATATAGAGTTTTAATACAATACTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGAGGGGGCTGAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAATTCTTGGCACATAGACATTTTTTAATAAATAACAGGTATTTCTTTTACTAAGATTAAATGTGAGAGAACCAAGGTTCTCTGGAGGTTTTTCATTAAAACATTGTAACTTCATTTTAAATATTTGGAACTTTATATAGTCAATTTTAAACTCCTAAGATATTTTAATCAAAATTTATAATAAATAAATGTCTTATAAAACTTGTTAATACGTCAAACTTATGTTCATACAAAAGAAATAGTGAGGATAAATTTATTTAACACATTACACACAGTGCGATATTGTCAGGCAACGTGGCAATGATAATACTGTCAGAACCCTTGCCAAGCAGCCTGCAAAAGGGGCCCCAGCCCAGCCTCAGCAAACCCTAGGTGGCCTTGCAGAGTGCTCCCAGGAGCTTGCTTGGCAGACACCTCATTAGGAAAACAACTGAGACTGACTCCATGAGATGACCAGGGCCCCTTGAAACTGGAATGGGTAGGTAAAAGGAAGACAGTACATACATAATAAAAAAACTTCTTATATACCAGTTAGAAGGAATGAATAGATTATACAAACTAGATGGTATTTAAAACAGTTATAAGGAGAAAAAAGAGAAGTATGTATATCATGACACCTTTTGTGTGTGTGTTTAAAAAAAAACACACATAAAACAATACTAGATTAAAGTATAAAAGCAGACTAAAAGTTGAGGGGGGAAGGTGAGGGAAAATGGGACCAGGATAGGTAACAGGGAACTCCAGCTTTATTTTTTTAATATAAAAGACTTAAAGGAATTTATTAACATTTCCTTCCAGCGGGGGAATATATTAGGTTTATTTTATCCTATGTACTCCTCTGCATTTTAAAATTTCTAAAAATAAATGACAAAAATATAAAAGCTAAAGACTAGCTTACAGGGCAGCAAAAGGTAGGGGTTGATGCCATATTCCCCTTATAATTTGGTTAAAACCAATACACTAATTTTTCCCTTCAGTTAAACTGACCTAAGTACGTATATATTTTTTGAAACATAGGACCATCTGGGCCACCTTTGACAAATATTTTTATTTAGCAAATACATAGAGCATCTATGGTATGTCTAGCACTATAGAACTCAGGGGTGGAAAACTCGGAGTTCTCAAAGTGTAGACAGAAACTCAATGTATGCATTGTCCAGTCCTGGTGTGTGAGGAAAAAACCTAGGGAAAGCTATGGTAAACTGAACTAAAGTTCAAAAATGTTTCAAAACACTATGCTAACCAAACTAAATACAACAGTAAGCCAAACTCTCCCACGACTGCAAATTTCCAGTCTCCATGGTAGATGCTAAGATAGGACTTAACTCATGGAAACCCATGCTAACCACCTGTTATGAAAACGTTACCTCCAGCAGCTTTTCTAGTAATTGTCATGACAGGGTAAATGAAAAGAATCACCTTAGCACTTGGAAAAAATGAGTAATTATTTATTGCATAAAGGAGGAAAAACAAGTTAACAGTCAGGATGGGCAAAGTGTACATAACCACAGAGGTGGGTAGCATGGATTTACCTGATTTTAGTTCAACAGCTTCATAGATCTAAGCTTCAAAAATGGCAGATGCACCGTGTGTGTTATTCGGGCCAAACATGTGTAATGGAATGCTAAGTGGAGAGAAAAGGTCAGAGAAGTGATAGGCACCCTGAGGCCGTCATTCTTTATCTGTTCAAATAGTTACCTCATTTTGGCTTTTGGCCCTGGGGGGCAGGCTCCGGAGCCTCAGGTGCGTCAGAGTTAAGCTGTTTCCCACCCCGGAACACGCACCGGCATTTCAGCCTTCACTTGCTCAACTCCAGAGCCAGGACGCTCCAGAGAGGACAGAGGGAGCTCCCTAGTGGCCAGAGCCTGCAGTTCAGCCCCTCCGCCCTTCCTCTGATCACACAGTCAGGCTGACTGAGAAAGAAACAAGAAGCAACACAGGGCCGGCTGGAGCCAGGGAGCATGAGGGGCGTCTCTGGGAGAGGGAACCCGTGGCCCAACTTTCTTCCCAAATCACCAGATTGTGGAAGAAGCATGTGGAAGAGGAAAAAGTCCATCTCCCCGCCCCACAATCTGTTCAACTTTTTTTAGTAGTTCTGTGACTTTAATCATTAGTATTCAGTGATAAGAATCCCAGAGTGATGTTTTGTCATCTGAATTTTCCAAACGCGAGTATAAATTGGCTTTCTCTCGTGGAATTGGTACTTTTGTTTTCTGATTAGGAAATTAAATTGAGTTTTGTTTCTTTAATTTTTTAATCTGGTGTGTTGTTTTCATTAATTCCAG
Seq C2 exon
AAGTGGAAAGCTAAATAACCATTTAGAAGCTGCTATTCATGAGGCCATGAGTGAACTGGACAAAATGTCTGGGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406:ENST00000407073:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.901 A=NA C2=0.938
Domain overlap (PFAM):
C1:
PF0085512=PWWP=FE(29.3=100)
A:
NA
C2:
PF0085512=PWWP=PD(22.0=69.2)
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:
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