HsaEX6001412 @ hg38
Exon Skipping
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31800691-31801912:-
Coord C1 exon
chr11:31801871-31801912
Coord A exon
chr11:31801561-31801776
Coord C2 exon
chr11:31800691-31800856
Length
216 bp
Sequences
Splice sites
3' ss Seq
TGTCCACTTCCCCTATGCAGGTG
3' ss Score
11.06
5' ss Seq
AGCGTAAGT
5' ss Score
10.07
Exon sequences
Seq C1 exon
ACCCATGCAGATGCAAAAGTCCAAGTGCTGGACAATCAAAAC
Seq A exon
GTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGC
Seq C2 exon
GTGTCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-'35-80,'35-75,41-80
Average complexity
C2
Mappability confidence:
92%=100=88%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.014 A=0.020 C2=0.637
Domain overlap (PFAM):
C1:
PF0029213=PAX=FE(15.9=100)
A:
PF0029213=PAX=FE(56.8=100)
C2:
PF0029213=PAX=PD(22.0=32.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
ENSP00000241001, ENSP00000368403, ENSP00000368406, ENSP00000368410, ENSP00000368424, ENSP00000368427, ENSP00000388132, ENSP00000397384, ENSP00000404100, ENSP00000404356, ENSP00000431585, ENSP00000480026, ENSP00000490963, ENSP00000491229, ENSP00000491295, ENSP00000491492, ENSP00000491679, ENSP00000491779, ENSP00000491862, ENSP00000491872, ENSP00000491948, ENSP00000492024, ENSP00000492111, ENSP00000492177, ENSP00000492181, ENSP00000492296, ENSP00000492315, ENSP00000492397, ENSP00000492409, ENSP00000492476, ENSP00000492587, ENSP00000492756, ENSP00000492802, ENSP00000492822
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGATGCAAAAGTCCAAGTGC
R:
CTTGCGTAGGTTGCCCTGG
Band lengths:
202-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains