HsaINT0100398 @ hg38
Intron Retention
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148458203-148462684:+
Coord C1 exon
chr2:148458203-148458871
Coord A exon
chr2:148458872-148462581
Coord C2 exon
chr2:148462582-148462684
Length
3710 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
TTTTTAAACTATTTTTACAGTCC
3' ss Score
7.15
Exon sequences
Seq C1 exon
GCTACATTATTGGAATTTTGAAGTCATGAAAACATCAGATGAACCAACCTGCAACACCTTGGATTCAGATTGGAAGATAAAGAGAAAGTTTAAAGAATGTGGCCTATAAAGGCGGGTACCTGGAAATATTAACCGACTCACACTGTAAAAATGAGACCAGTTTCTAAACAATAGAGATTGTCTTAGTACAACATCAAGGTTCAAGACAAATGTTGAACTAAAAACTTTACACTCCCCACCCCCACTTCAGACAGGTACCAGCATTGGTGAATTATGATTTTCCTTAGTCAGAAGCACTCATTTTTACCCATGTAGACCATCCTTAGGAATTAAATATTGGTTATTTAATGTAGATTATAATGGGAAGCTGATTTTTTTCACAATGGCATATTTCAAGGACTTGGTTCCAAACTGAGCTGAAGCTTCCCAATGCGTTTTGTACAGTCTGGGAAAAACTGTGCTGCACTGGCCCACTTTTGAAGGCCATCATGCTCTGTAATATAAGGATATCATCTTATTGCTGATATCTTTGGAGAGTCCCTAGCAGACACAGAAAATGAATGGAGGCAAAGAGTGTGACGGAGGGGACAAGGAAGGAGGTCTTCCAGCTATACAAGTTCCTGTGGGTTGGCAGCGTCGTGTGGATCAAAATGGAGTGCTTTATGTCAG
Seq A exon
GTAAGTTCTTATTATTACCTGTGGTACCTGCAAAGTTGTACTCCAAAGACTAAGGAGAGAACCAAGCATGGTGACTGATGGCACCTCATATAAATGTGAAAAAGTGACCTTTGTGCTAGAAACATATGAGAATTTTTATTGCCTTAGATTTCCAGAGAGAATTTTTTGCATTACTTGTTTATATAAGGTGTCATTCTGCTTATCTCTGTAACAAGAATAAAGAAAAATAAGAAGATTTCTAAAAGAAACATGCAATCATCATTACCACATTCACAGGAGAATGTAAAATACTGGGAATATCACTTGACCTGATATCACTTGACAGAATTACTCTGTCCTTCAGAGTGTGTCAGCTGGCTTTTTTGATAAAATTGAGTTTTTATCCATAGAAAGTTTCAATTATTAGACTTCTTAATGCCTCATGTTAACTAAAAATACATTTCTTTTTTTCTGCATAGTCTTTAATCTATTTCCTTGCGTGTAATAGTAAAAGTGAAAAAGTCATGGAGAAGGCTCTGCATCTTACAAGTAAATAGTCATACAAATAAAATGCCTACTCTTTTCAATGTCAATGCTATACATCTGTTGTAGAACAAGTTGAATGGAATGACTAAACTGTTAAGAAGAAGTTTTAGTCTTACTCATTAAATAGTTGACATCTAAGTTCCCTACTTCATAGTTTTTCTGTAAGTGTCTGAAAGAAGATACCATAAATCTTTCTTGTGATGTAATGAAAAATTTTAGAAACAACTTAAAACTTTTTAAAAGGTATCACATTCCATTATTAGATTGATGCATTTACTTTCAGTGTGGCTATTTATATCCCAGCTTCAACAGAATTTGCCAGTCCAGCAAGAATGTATTCATAGAAATGAGATATTTTTGGTTATGTAAACACAGACTATTTTATGGCATAATAACTCAGAAAGTCAGTTCAGATTCTGTCCTGAGTTTGTTTGCTTGTTGTGTGTAAGGCGTTTCTGGAGGTAAATCTAATTACCAATTAAAAGCATTTTGTTGCATAAATTTTACTTCTATAATATTAAAGATGTGATCCATATTTATTGGGGTGAAGGGATAAGAAAGCAGAGAATATGAAGCTCATCCCATGGTAGATGAGATGAACAAGCACACATGAGATAACTTCTTCAGAGTTTCTATTGCCAGTGCTGTTAACAAAGTACCAGAAATACTTTGTTATAAATATAATATAGCAAGTTATCTGTGTTATATGTTTATACTTATGGTTGTTCTAGTTTATAAAGAGCAAATGTATATTCAGCATAGAACAAAAGACTCTAAAATCTGGATAATTTTTTTTTCACTTCCTTTTTGTTCCTATGAAAGATAGATGAGCTTTTTCAACTTCTGCGAGCAAAAACCAAAGTAAATCTGGGAGTCAAAAACCAAGTTAAAGTCTAAGAAACTGTCAGGTATCTTGTTCATGATTTTCTAAGTCTGACTAGACTTTATACCATCTGATATCCTTGTTAGTATGGGTTCTCCAACTTCAAATCTGTATACTGATAATTATTTTGGAAACAAGCTTTCCTAGATTAGGTAAAACACTCTCAAATTAAATTAACCAGCATAGATTTAATTTGTTTGTATATAACTAAATTACTACTTGAACATGTATAGCTCCTTCTATAGCTCCCTGCTCAATGTGCAGTTTACTCATAATTTTTAGATTGGTCTCCAGCTGCTCCTGCCTCAGGGTGGCATTGAGGCTACACATTAAATTTTCCACCTACTTCCAATCTTCTAAGCTTTATCTATGCTGTAAGTTTTTAAACTTTTTTACATTAATTATTACTCTGAGAAATTAATTAAAGAGATACAACTGAAGGAAAGAAGCCAACTGACTTTTTGAGAGGAAATGTTTTTAAAGCATCTGGAGTACTTTAATAGAATTAAGGAATTCATGTCTTCAGGTTTAATTTTACAATTAAATTCCTCTAGGATTCCGTCCATATACTTTCTTCTAAGTTAAAATGTTGGGCAGTTCCTTTTCACCAAATTCATGAATGCTTCACATGAAAAATCAACAAGACATTATACTTTTTTTCTTGTTGTTTTTGAGACAAAGTCTCACTCCGTCGCCCAGGCTGGAGTGTAGTGGCGCATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAACATTTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAAGCACACACTACCATGCCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCACTGCACTCAGCCTGACTTAGTTTATTGAAATCACCAGACCTCCAAAGACATCTTGTTGCCCTTCCCTGCAGTGGTTGAACTCGTCACTAAAATGAGAATTCTCTGCATATCACCTGAAAAAAAAATAGCCTAAGTAAATGAGTAATTTGACAAAGTTGAGGATTTTTGTTTAGATTTTCTACATGCTGAAATTACTTTCATAAGTGTCCATAAATAAAATATGAATTGCATTTTAAAGCTAGTTCACTAATAGATTTTTAAAAAATACTACTTGTGTTTTTGTAGATAGAACAATCTGTGTCCAGTATTGTAATGTTTTGTATATGAAATGGAGATTATTGTTTCTGGATGAACTTGGTCAGAGGGCTTAAGTGAAGGTTTTGGTAAATAGTCATAACTAAAAGATATTCTCAAGTGAAAAGTATATAATTTCAAAGCATAATATGTATTTAAGTTCAAACATTGACATGTTAATGTAAAGTCCTAAAATGCAGATTGTCCATCTCACATAAAATAACTCCCATTGTAAATAAAAATCAGAGACATCTCTTGTCATCTGAATTACTACTTAATCTGTATTGATGAATATTCACATATCTTACTGACTTTTGTGATCTGAAACTTCGTAACATTGAAGTACCTACACGATTATTAGCCCGAAGACCTGCGAGGCACATTTCTGCTGCCTAAAACCCTATTTCCTCATAAGTTTCCTTTCTTTTGTCAACTCTGCTTAATTCCTCTCTCTCTCTCTGTACAGTTTGACTCTTCAGTGTATCTTCGGATATAACTGATCTATTATATCTTTAAAGAAACACATGGGTAAGGGGGAGATAAAAGAAACCTGTTTTTACATAGGGACAACTTGGTTCTAGATTCCAAGATAAACAGGGACTTGCTCACTCCAACTTTTGTGGACTTGCCAACTTTCTGGTTCGAACTTCAATATGTTTCTAAATTTCTGTTTTTCCTCAAAGAGCTTTCAAAGTAGATATTCTAGTTTAAAATGAGAGTCATTGCTTTTATGTAGTTTTCTTGTTCTTTGTTCCTTTCTTGCCTGCTTCTGTCCTTTCTTAAGAATAGCATTTTTACCACCTTTAGTCTACTCTTGGTTTTCAGAATACTTTTATTTAATTTTCTATGAAGATCTGTATTTTTCTGAGAAATATTTTGGTTCAAAAGAAAACACAATATTGTTAAAGGCTATAATTTAGTAGCTAACATAATATTGACAAAGAAAATGCTTTTCCCTAGTGGGAAAATATCCCATAAAGGACAGTAAGACTATAAATTATGCCTTTTTTCATATAATATGTGTAGTCAAAATTATTTCCTGATGTTTTTTTAAACTATTTTTACAG
Seq C2 exon
TCCCAGTGGGTCTTTGTTATCTTGCTTGGAGCAGGTTAAAACATACCTGCTTACTGATGGAACATGCAAGTGTGGCTTGGAATGTCCTCTTATTCTTCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406:ENST00000407073:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.247 A=NA C2=0.000
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
- Autistic and control brains
- Pre-implantation embryo development