HsaINT0120770 @ hg38
Intron Retention
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31794032-31794788:-
Coord C1 exon
chr11:31794630-31794788
Coord A exon
chr11:31794115-31794629
Coord C2 exon
chr11:31794032-31794114
Length
515 bp
Sequences
Splice sites
5' ss Seq
AAGGTGATA
5' ss Score
4.18
3' ss Seq
AAATCAACTTACTCTTTCAGAGT
3' ss Score
7.31
Exon sequences
Seq C1 exon
ATGGCTGCCAGCAACAGGAAGGAGGGGGAGAGAATACCAACTCCATCAGTTCCAACGGAGAAGATTCAGATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACATCCTTTACCCAAGAGCAAATTGAGGCCCTGGAGAAAG
Seq A exon
GTGATAGAGTTTTTCAAAGTAGAGAAGCAGTAAATCAAAGTAAATGCCACATCTTCAGTACAAAGAGCTAAATTTAGCCAGGGCCCTTTGCATAGAAGAATGAAAAGATTTCCTTTTTTCTGTCTTTTTATTTCTCTGGGCATCTTTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGTGTGTTTCTTCTTTTCATCTACCAGTAATTCAAAGACTAAATGTCTGACTTATAAGGAAAAATGATGATTTGGCTATTTCAGGCCACAGAAAGGTCACTGAATGCCATTCCAAAGAAAATTTAACTTGGTTCTGGTGGGAAAGTTCTTCCAAGTACAGTCAACACTAGAAGCATTTTAAAGGGAATTGGTTGGAGGTAATGGGAGTGGGGAGGTGGGAACCAGTTTGATGCACAGTTTGGTCAACATATTTTGTGTAGTTCTGGCACAATATGGAAAATCAACTTACTCTTTCAG
Seq C2 exon
AGTTTGAGAGAACCCATTATCCAGATGTGTTTGCCCGAGAAAGACTAGCAGCCAAAATAGATCTACCTGAAGCAAGAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372:ENST00000419022:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.784 A=NA C2=0.438
Domain overlap (PFAM):
C1:
PF0004624=Homeobox=PU(29.8=31.5)
A:
NA
C2:
PF0004624=Homeobox=FE(47.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
ENSP00000241001, ENSP00000368401, ENSP00000368403, ENSP00000368406, ENSP00000368410, ENSP00000368418, ENSP00000368424, ENSP00000368427, ENSP00000388132, ENSP00000397384, ENSP00000404100, ENSP00000404356, ENSP00000431585, ENSP00000480026, ENSP00000490963, ENSP00000490971, ENSP00000491065, ENSP00000491210, ENSP00000491214, ENSP00000491229, ENSP00000491267, ENSP00000491280, ENSP00000491295, ENSP00000491324, ENSP00000491365, ENSP00000491492, ENSP00000491517, ENSP00000491679, ENSP00000491779, ENSP00000491862, ENSP00000491872, ENSP00000491904, ENSP00000491944, ENSP00000492024, ENSP00000492081, ENSP00000492129, ENSP00000492166, ENSP00000492181, ENSP00000492205, ENSP00000492296, ENSP00000492315, ENSP00000492316, ENSP00000492397, ENSP00000492409, ENSP00000492437, ENSP00000492476, ENSP00000492587, ENSP00000492658, ENSP00000492756, ENSP00000492769, ENSP00000492802, ENSP00000492808, ENSP00000492822
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCCAGCAACAGGAAGGAG
R:
CTGTATTCTTGCTTCAGGTAGATCT
Band lengths:
238-753
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