HsaINT0120768 @ hg38
Intron Retention
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31800691-31801776:-
Coord C1 exon
chr11:31801561-31801776
Coord A exon
chr11:31800857-31801560
Coord C2 exon
chr11:31800691-31800856
Length
704 bp
Sequences
Splice sites
5' ss Seq
AGCGTAAGT
5' ss Score
10.07
3' ss Seq
GATTTTGGTTTGATTTGCAGGTG
3' ss Score
9.04
Exon sequences
Seq C1 exon
GTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGC
Seq A exon
GTAAGTTCATTGAGAACATCTGCCCTCCCTGCCCTAAGCCCAATGCTCTCTCCTCTTTACCTCCTCCCACCCTCTCTCTCCACTGTCTCTTAGTCTGTGTCCTCTCCCTGCTCCACATTTGTCTCCTTTGTACCTGGGGGAACAGAGAGGAATGCCCTGACTTTTCTTTGACTGTCTGGAAAATGGGAGTCAAGTGTGGGGAGTCATTCACTTCATTTGCATGCTGCAAAACAGAGGGCGGAGGCACCAGGGAAAGGCACTTGAATGAAGAAGGAAAATGAGAACCAGATTGTAACTTCGTCCTAATCCACCTGCCAGAACTTTCCTTCAGGTGTCACACATCCATTTCCATCCTAATATTAAACAATATAATGAAAGAAAGCTTTACAACAAGTCTAAATAGTTTTTATTTTCGGGCAGTCTTTTAACAAAGCAAAGCAACCGTGTGAGTTAGGTCACCAGAGACACCAAGCAATGGTGAAGGACCCCCTCCGCCCAATTCTCTATCCAACTAAATTTCCATGCCCAAAGTGATAGCTATCATTTTTTCCACGGTGTATCTGCAAATCCACCCACTGTCCCGGGGTGGCTGGGAGCTTTTTAACGGGTTGAGAGTTGCTTTTTAAGGTTGTGGGTGAGCTGAGATGGGTGACTGTGTCTTCAGGAGACACTACCATTTGGTTTGATTTTGGTTTGATTTGCAG
Seq C2 exon
GTGTCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372:ENST00000419022:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.020 A=NA C2=0.637
Domain overlap (PFAM):
C1:
PF0029213=PAX=FE(56.8=100)
A:
NA
C2:
PF0029213=PAX=PD(22.0=32.1)
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, ENSP00000492111, ENSP00000492129, ENSP00000492166, ENSP00000492181, ENSP00000492205, ENSP00000492296, ENSP00000492315, ENSP00000492397, ENSP00000492409, ENSP00000492437, ENSP00000492476, ENSP00000492587, ENSP00000492658, ENSP00000492756, ENSP00000492802, ENSP00000492822
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTCCAACGGATGTGTGAGT
R:
AAGTCCCCGGATACCAACCAG
Band lengths:
358-1062
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