Special

HsaINT0100389 @ hg38

Intron Retention

Gene
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148483110-148485950:+
Coord C1 exon
chr2:148483110-148483436
Coord A exon
chr2:148483437-148485741
Coord C2 exon
chr2:148485742-148485950
Length
2305 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
3' ss Seq
TTATGTTTTTCAAACTGTAGGTG
3' ss Score
8.52
Exon sequences
Seq C1 exon
GCGGTTCAGGACCATCATCCTCCATAGCCATAGCGGGCACCAACCACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCATCTTCCACACCCCTTGAACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTAAATATCCTCCAGCCTTCAGCAGGAGAAG
Seq A exon
GCAAGTCTGAGATCAACCTCCACCCTTTAGGTTTTCTCAACCCGAATGTAAACGCTGCTTTAGCTTTTCTCTCCAGTGACATGGATGGGCAGGTATTGCAGCCTGTTCACTTTCAGCTCTTAGCAGCCTTGCTTCAGAACCAAGCCCAAGCAGCTGCCATGCTTCCCCTGCCATCTTTCAATCTGACCATCTCAGATCTTTTGCAACAGCAAAATACCCCTTTACCCTCATTAACACAGATGACAGCCCCACCAGACCATTTGCCAAGCAATCAGTCAGACAACAGCCGAGCTGAGACCCTTTTAACCAGCCCCCTGGGGAACCCTTTACCAAGCTTTGCAGGCAGTGACACTACTTTTAACCCCCTGTTCCTCCCAGCTGTCAATGGGGCCTCAGGATTAATGACCTTGAATCCCCAGCTGTTGGGAGGTGTCCTGAACTCGGCATCGGCCAACACCGCTAATCATCCAGAGGTTTCCATAGCAACCTCCTCCCAGGCAACCACTACCACAACCACTACATCATCAGCAGTGGCAGCACTGACTGTCTCAACACTTGGTGGGACAGCAGTGGTGTCAATGGCAGAAACATTGCTGAATATATCTAATAATGCTGGGAATACACCTGGTCCAGCTAAACTCAACAGTAACTCTGTGGTGCCACAGCTACTTAACCCTCTACTGGGGACAGGTCTACTTGGTAAGTTAAATTTTTTCACAAATTTTTTACAAAAGAAACGTTTTTCTAATTCTATTTTCTCCTTTTTAAAAACTCCATTTTGTCACACTATTTTTAAAAATGTTTTTGTTATGTCACAGCTTGCTTAAGGAACTAAATATAACAACACCCACACACAACCATAGTTATACAAACATGAGTGACTTTTTCCTCTTTCCCCTATTCTAGCAATACTAAATATCATTTTAATCTGCTTTCTCTTCTAATTCTGATGCCACCTAAACCTAACCTACCCATCACCTCTTAAACCAAGTAGAGTCTCATTTTTCAAATAATAAAGCACAGGTACATCTTAAAAATCACTTTTATTTGAATTTTAGTTGGTGTGGCATCACAGGGTTAGTATGAGCAGCTGCACTGTGGATGGAAACAGATTGAGAAAGTGTTTTCCAGGTGAACCCTAAATAAACAAAACTAAATGCTTGTCTAGCAAAACAAGAAACAAGATGTAAAAACACGCAAAGCTAAAGTTTTCCCAAGTTCAAGGGAACAGACAGCCCCTCTAGCTGCTACTAGATTTCCTCAGTCAGTATTAATTTTTTGACTTTTGTGGCTTAAAAATACAGTTTTTCATCTGTATTATCCTATCACAAAATAGTTCGAAAATAATGCCAGGTATATTTAACTGATGGATATAGGTAACTATAATATAAAGTGTGGGGATGGTGTCCATAAAGTCTAGAAACAGGGAAATGTACATCATGATGTCAATGGCATCTTCAAGGTGTAAAAAATTTGTTTATTATTTATGTGTTTTTGATTTTATGAATGCCTTTATAATATAGTATAATTAGTTCTATTTGGCATTGAAATCTTTGTAGTTAAATAAACTACGAAGCATTACAGATTTACATGTTTCAAGTTACAAGACAATTTCTATGACATTCTCCTCAAGAAAATGTCAGAGTAATTTCAAAATAATTTTGAATTTTGAATATAAATTTAATTATTAATCCTACTGATTATATAATATTTATTTTGAATGATTATGACAATGAATTCTTTTGTGTTGTTAGCTTTCTTTTCCATGTTAATTTTAGGTGACCAACCTTCTACTGCAAAACAAAATGCACGTTTCTAAACCAAATCGATGATTTGATTTGGTATCTATTGATGATTATGGCTTGAGAACTAAATTTTGTAAACAAGGCCTGATCAGGCTCACTTATTTTAATTATCTGGTCAGATACTTACAATTGCTAAAACATTATAGGACTAATTTCAACCTTTAATTTTAGGTGCTCTAAAATAGATCTAAAATCTAAAAATAGATGAAGGAATCATATGACACTGCAGCTCAATATATAAGGACTGCCTAATGAATAGAGCAAAGACTAAGTAGTCTTTCCATGATGTAAAATTAAAAAACTAATTATACAAGATAAAACTAAATAATAAAGCTACTCTTTCCTTACCACTTAGTAAGACTTTGAGAAGTAAAAAAGAAAAGCATTACCCAAGTAAGCATAGCACTTAGTTTCTGTTTCAGGAATTCTCGGGTACAAAGAGAGGCATCGAATCTCCGAAGAATCACATTTATTTATATTTTATGTTTTTCAAACTGTAG
Seq C2 exon
GTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGATGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACAATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406:ENST00000407073:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.444 A=NA C2=0.566
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development