Special

HsaINT0131463 @ hg38

Intron Retention

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120816832-120818527:-
Coord C1 exon
chr4:120818353-120818527
Coord A exon
chr4:120816925-120818352
Coord C2 exon
chr4:120816832-120816924
Length
1428 bp
Sequences
Splice sites
5' ss Seq
ACAGTGCGT
5' ss Score
5.66
3' ss Seq
TTTTTCCTATTTCCCTTTAGTGT
3' ss Score
10.89
Exon sequences
Seq C1 exon
ATCGCCTTGGCTGTAAAGAGGACTATGCTTGTCCTCAATGTGAATCGAGTTTTACCAGTGAGGATATTCTTGCTGAGCATCTCCAGACATTGCACCAGAAACCCACAGAGGAGAAAGAATTTAAGTGCAAGAACTGTGGGAAGAAATTCCCAGTTAAGCAGGCTTTGCAAAGACA
Seq A exon
GTGCGTATATTAAAGAAATATCTTTAAAATTATAAGCTAACACAGTTTATTCCATTCAGCTTAACTCATAGTTTTTAACCTGTGTGTGTGTGTGTGCACGCGCGCACGCGCATGTTTTGTGTGTGAATGAGAGATTAAGCATTTTACATTGGTATTGTCATTAACTCATCTTTTCTTAGTATAGTATGTTGATTATTAAAATATTCAAATTATGGATTTTAACACATAAACACTGTTTATGGTAATTAGTTTTTGTCCATTTATTAATTTGCCATTATGTATCAAGCTTACTGGTTTAATCTGAAATTCAGATATGCCTACTTTAGTTACTCCTTTGAGGTAACAGACTTTTAGTTGTCTACGTTTTATATTCCTTCTGGAATCTGTTTAAAAAAAAGTTTAAGAAATGGGGAGTTCAAAGTATAAAGAATTCCTGGACATTTTGGGAAGCACTGTTTATTTGAGAGCAACTTTGGAGGAATAATTTAAAGATGCATAGGTCCCAGTTATAACAATATGATTAATTAGATGATCCCACACATAGCTCTGTACCCTTTTTTATTTTAACAATTTATATTAACAACATAAAATTATCTTTATTTAAATATTTTACAGGATCAGAAATTGTTAAAAGTGAGAAAGTAGGTATATGCATTTGTAAAGTTTTATTTTTTTACTCATTAAAGTTTGTAATTTTAATCAGATAATTGAATTTAAGTAATTTAAAAGCATATTTACATATTGGATGCAACTGTAGACTCTCATTGTGTTGAAGCCAATTACTTCCAATATGAAAGTAATGTAAATTGTCCCATCTCATCAACATATCTCTTCTCTTATGTGCTCCCATCCTGCCATTTACTTTCTTTCTCCAACCTTAGCTTCTCATTTTAACAGAATGTTACCTTACTTATGAGCAAGAAATCTTTAACATAGGCTTTAATGTTACATTTTTACATTTTTGTGTTTCATTGAACTAAAATTCTGAAATATGCTACATTTCATACTAAGACTGTATGAATATTATTATATGCATCAACTTTTGCTTATAAAAATTGAGATGAAAATTGTGCTTAAAACTTAATAAATGTTCAGAATATCAAAACTTTTATAATAGCAGGATACTACATATTTAGAAATTCTATTGTACTTCCTTAAAAAACAAGCAAGGACTATATGCTTTTAAATAAATAGATGTTAAGTTGCATTCTGGTTAGCTTTTATTGCATTTAGTATTATATATTTATACAAAAGACACTGCTGAGCAAGAGCTTATAGTTAAGGTACTGCTAAAAATTTAAAAAGGCAAAAGACAATGAAAAAAGGGATCACGAACATGACTTTATTCAGAGTTAGTGTAGTTTCATTTTTGTCTTAGAGTTCCAGTTTTTGTTTTCTTTTCTTTCTCTTTTTCCTATTTCCCTTTAG
Seq C2 exon
TGTTCTTCAGTGCACAGCGAAAAGCAGTCTAAAGGAGTCTTCGCGAAGTTTTCAGTGCTCTGTTTGCAATTCTTCCTTCAGTTCAGCATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738:ENST00000264808:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.077 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF138941=zf-C2H2_4=WD(100=40.7),PF0009621=zf-C2H2=PU(78.3=30.5)
A:
NA
C2:
PF0009621=zf-C2H2=PD(17.4=12.5),PF0009621=zf-C2H2=PU(60.9=43.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCCTTGGCTGTAAAGAGGAC
R:
TCGATGCTGAACTGAAGGAAGA
Band lengths:
265-1693
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