HsaINT1028103 @ hg38
Intron Retention
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152672978-152673706:-
Coord C1 exon
chr2:152673598-152673706
Coord A exon
chr2:152673043-152673597
Coord C2 exon
chr2:152672978-152673042
Length
555 bp
Sequences
Splice sites
5' ss Seq
AAGGTATTA
5' ss Score
7.04
3' ss Seq
TTCATTTAAATTATTTTCAGCGG
3' ss Score
6.66
Exon sequences
Seq C1 exon
TTTTACTCCCAAAAAAGAAGAGGAGGAGAGCCAACCAGCAAAGAAAACATACACTTGGAATACAAAGGAAGAGGCAAAGCAAGCTTTTAAAGAATTATTGAAAGAAAAG
Seq A exon
GTATTAATATTGCAGATTTTTATTGTTTCTTAGCTTTTTGACATCAAGCATGTATTATGGATTTTTATGTGATGTGTAATAATTACCCAACAAATGACGTTACTCTTTAATTAAACCTTGATGGTATTGATAATACCAATCTCATGAACTGTTGTAACTGAAAAGCAACTAAATATGTCTTTTTTTTTTTTTTTGAAGTACACTTTTGTGAAACTTTCAACACAAAAACTATTGTGTACAAGGTACTACACAAGCACATTTCTACCCAATATTTAATGTAAGGGTTTTTTTTTAATTCATAATAGTTATCTTTTATCCATAGTCTAAGAAAAAAGCATTTATGTTCTATTTAAATTTCAGTTAAAGTTTTCATTTTAGTTCATAGGTGTATTACACAGATTTGCCTTCAGTAAAAAACTATTTTTTATAACTTGTTTCAAACTCCTGCAAAGGGAAATGCTTGATGTTTGCAGTTAGTATTATACTCAGTTTCCTATTATGTGACTTAAACTATTCTTGTGTGAAATTTTAATTTTTCATTTAAATTATTTTCAG
Seq C2 exon
CGGGTACCATCGAATGCTTCATGGGAGCAGGCTATGAAAATGATTATTAATGATCCACGATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504:ENST00000410080:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.736 A=NA C2=0.250
Domain overlap (PFAM):
C1:
PF0184614=FF=PU(24.0=32.4)
A:
NA
C2:
PF0184614=FF=FE(42.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
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