HsaINT1026218 @ hg38
Intron Retention
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31810828-31811331:-
Coord C1 exon
chr11:31811213-31811331
Coord A exon
chr11:31811016-31811212
Coord C2 exon
chr11:31810828-31811015
Length
197 bp
Sequences
Splice sites
5' ss Seq
GAGGTCAGG
5' ss Score
4.94
3' ss Seq
AATCTCTGTCTCCTTCCCAGGAA
3' ss Score
9.4
Exon sequences
Seq C1 exon
GGTGCATTTGCATGTTGCGGAGTGATTAGTGGGTTTGAAAAGGGAACCGTGGCTCGGCCTCATTTCCCGCTCTGGTTCAGGCGCAGGAGGAAGTGTTTTGCTGGAGGATGATGACAGAG
Seq A exon
GTCAGGCTTCGCTAATGGGCCAGTGAGGAGCGGTGGAGGCGAGGCCGGGCGCCGGCACACACACATTAACACACTTGAGCCATCACCAATCAGCATAGGTGTGCTGGCTGCAGCCACTTCCCTCACCCACACTCTTTATCTCTCACTCTCCAGCCGCTGACAGCCCATTTTATTGTCAATCTCTGTCTCCTTCCCAG
Seq C2 exon
GAATCTGAGAATTGCTCTCACACACCAACCCAGCAACATCCGTGGAGAAAACTCTCACCAGCAACTCCTTTAAAACACCGTCATTTCAAACCATTGTGGTCTTCAAGCAACAACAGCAGCACAAAAAACCCCAACCAAACAAAACTCTTGACAGAAGCTGTGACAACCAGAAAGGATGCCTCATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372:ENST00000419022:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
5' UTR
No structure available
Features
Disorder rate (disopred):
C1=NA A=NA C2=1.000
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF0029213=PAX=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCATTTCCCGCTCTGGTTC
R:
GGCATCCTTTCTGGTTGTCACA
Band lengths:
242-439
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains