HsaINT0120766 @ hg19
Intron Retention
Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:8620]
Coordinates
chr11:31824252-31828010:-
Coord C1 exon
chr11:31827950-31828010
Coord A exon
chr11:31824383-31827949
Coord C2 exon
chr11:31824252-31824382
Length
3567 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
TCTCCTCTCCCTTTCCTCAGGTC
3' ss Score
13.5
Exon sequences
Seq C1 exon
AGCCCCATATTCGAGCCCCGTGGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACA
Seq A exon
GTAAGTGCCTCTGGTCTTTCTGGGACTTCGGGCTCGGGGTGCGCGGACCCGAGGGTCAGGGGAGGACACAGGGACTCGCGACGCCCGCGCTGGCCCGGCCGCCGACCGACTGAGGCCCGGGGACCTGCGGCGGCTGCTCCCCGCTCCGCGCCCGGCAGCCCGGGAGGGGAGGGCGTTTGCTTGGCTCTTCTCGATACTGGAGAAGCAGGGGCTGGGCCCTTAAGAACAGCCCGCCCGAGTTTTCGAAGCTGCGGTAGAGAAACCCCATCCCCCCCAAATCCTGTAACTCACACCCCCTCTCGCCCCTGCCCGGGCTCTGACCCCGGAGAGAGGGGCTGGGCTGATCAGGGCGGGGCGAAGTCTTCTCCTAGTTGAGCGAGAAGGAGGCCCCTTTGGGCTTAGCCAAGACTGAAAGTCTCCACCAACCCGGCGGGGTTGGGGGCTTCTCTCCCCAAGTCACTCTCAGGGCAGCTCCTCCCCTCCTCACCCCACTACGGGCCTAGAAGGGATGGGGAGAGGAGCCCCCAGGCCTGCAGCAGGGTAGGGGTGGTAAACTCGCTGTTACAGGGCGCGGGAGAGAGCACGGTTTACTGGGTCTGGTAAGGAGGTGCCCAGGAATTGGAAAATCCCTGCCCTGGCAACTGCAATTGCTTGGGTCCTGATAGTCCCAGGCCCAGAGCGCTTTTGATACTTATGGCCCTTGTACCTCCCTGCTTTCCTCTGCCCAGACCCCGTGGGGTCCCACCCACCTTCCTGTTCGTGGTGGGTGCTGGTACGCGGCAGGGCTAGTCTAGAGCTCCGACCTGGGAGCCTGGAGGCCCAGCGAAACCAGGCCCGGTTTGAGGTTACGGTTGAGGCACACGGCGTCGGGGCTCAACTGAACTCAAAGTGTGGAAAGGCCCGGGTCTTCCAGCAGCCTGCCCTGGCCGAACCACACAGGCTTAAGGAGGGTCCCCAGCACCTTATCCATCTGTTTTGGAAACGCCGGTCGCCCCCTGGTGCTTCCGGGGCTGGTAAGCGCGTAGCTGAGGAAAGGGCACAAAGGTGGCGAGCTTTGCGGGAGTAGTTGTGCAGAACCTGCCGGACCCCAGGGCTTGGCCGGTAGGCTCGCCTTCGGCGGCTGGGCTCTCCCCTTGGAGCTCAGACTCCCCAGCCGCAGGCTGTCTCTCGGGCGGGCCCCAGCCAGGGCGCGCAGCCCTGAGCGTTTGTCGCTGCGGCCCGGCTGGCAGGCCCCGAGGGGCGCGGGGTCGCGGGCCGGCCGGCAGGGCTTTGTGCCGCTCGTTCCCGGGTGTGCGCGAGGCGCGGAGCATCCAAATTGACACCATATGTTTTCCTATTAGTTGCTTCGCGGTCGAGTTCTAGGCGCATAATCATCGCCAGTGGGCGAGAGCGCCAGCAGTCCCTAGGGAAGGGACACAATGATTGAGGCTTAACCTCTGAAGGGGAATTTGGAGCTGCGCTTTCTCTCTGCCATTTCGATGCTGGGAGTGGCGCTCTGGCCCTGGCGTCTCCTGGGCAAGCACCAGCCGGCGGTATCTGCGGAGGTGGCTGGCACGTTGTTATTTTTTGAAATGAGTGAGGAGGGAGGTCTAGATTTAGGCGGCCTTACGCGCCCGCCTTGGCATTAGCAGACTGGGAATTGCCGTGGCTATGCCCGAAGTTTGGAAAGTCTCTCTCGGTCTCTTTCTGGGACAGCCTTTCTTTTTCCGGGAAGCTTCCTGTGCCTAGAGGTGGGGCTCTGTAGCTGGAGGGGTAGATGGAACTTGCGAAGCAAAGGAAGGCAATAAAAGGAAGTTAGGAGAAACCGGAAACGTGGGCCAGGCCTTGCTCTGTTGGAGAAGCGGTGTCCCCGCAAAGTCCCTGCTTGCGCTGGTCCCGGCCGGAGCCCAGATCCCCCAAACGCCTGTCACTTCTCATCGAGTTGAGGCTCCGGCCCCCACCCGCGCCTTGGTGAGGGCCCCCCCTCAGCCCCAAGCCTTCGGCTACCCTGAAAACGCGGCTCCCCTCGAAGGGGAAACAAGTGCAGTTCAATCTCGTCTGAGTGATCTACAAATAAGGACGGAAAGGGTCGTTTTATCACGGTCCCGTTTGTCGTGACGATGCAATTTCCCGGAGCGGAGCACTGTCACAAAGTGACAAGGCTGCCACAAGCGCCCCGACTGATCTTTTCAATTAGCCTTCCATGCATGATCCGGAGCGACTTCCGCCTATTTCCAGAAATTAAGCTCAAACTTGACGTGCAGCTAGTTTTATTTTAAAGACAAATGTCAGAGAGGCTCATCATATTTTCCCCCCTCTTCTATATTTGGAGCTTATTTATTGCTAAGAAGCTCAGGCTCCTGGCGTCAATTTATCAGTAGGCTCCAAGGAGAAGAGAGGAGAGGAGAGGAGAGCTGAACAGGGAGCCACGTCTTTTCCTGGGAGGGCTGCTATCTAAGTCGGGGCTGCAGGTTGGAGATTTTTAAGGAAGTGGAAATTGGCAATTGGCTTTGTGTGTCTGTGGTTTTTGGGGAGGGGGACTACAAAGAGGGGCTAACTCCCTCTCCCTATTCTCTAAGGTTGGACCACAGGGATGAGGTTGTGAGATACAAAGATAAAGGAGGGATGGGGAACACTATGATGTGGTATTTTTCTTTTCTGTTTTTTCTTTTTGATAATATCTATCCTTGGCTAAGGGGAGGGCGGAGTTCAGCGGCGGAAATAAAGCGAGCAGTGGCTGGTGCGAACCGACTCCCGGCTCTAAGCCTTACTTGCGGTGGCCGGACTTGTCTGTGGCTGAAGCCGAGCCCGGGCTCTGACTCTCACGTCTGCACTGGAGGTGCGGAAACCTGGACTGGGGTTCACCAGCCACATACTGGCTGCTCTGGTTGTTCTCTCCTCTTCCTTCTTCTATTCTAACCAAACAAAACCCAACTCGATGCTTGTGCCAGGCCTTGGCCAGTTTGGACGGTGATGGAAACATTTCTGGATTTTAGCGTCTAAGGGAGCACTCAAGGGCTGTAAGGTTTGCTATCACTGTCCCAACACTGCAGAGACCTTGAAGGTTCAGTGTGGGATCTGTAGAACCCATGGTTTGCGGTGACACTCAGAGGGGATCTTTGGGAGATTTATAGAGCCGGTTCTTAGCGCTTTGTGGGTTCAGAGGCTGGCTGCAGTGTTTATGAAGAGGGGCAGTGGGCTGGGGACACTGCTGGGGTTATGGCTGTAGTGAGGTCCATGTGTACTTGTTCCTTGGCATGTGTCTGACTCTGTGTTGCTGCTGCAGTACAGTGGGCAGGGGCACGGTTGCTTGGACTGGGCTGCCCGATGTCTGGCATGGCTGGTGGTCCTGTTGTCCTTTATTTGATCGATAGCAGGGAACTGACCGCCGAGGTTGGCACAGGTTGGCAGGGGGATGAGGATGCATTGTGGTTGTCTCCTCCTCCTCTCCTTCTTCCTCTTCCCCTTCCTCCTCTCCTTTCTGTTCTTGTTCTCCCTCATCTTCCTCTTCCTTCTTCTCCCTCTTCTTCCTCTTCACTCTGCTCTCTTCTCTTCTTTTCCCCTTTCCTCTCCTCTCCCTTTCCTCAG
Seq C2 exon
GTCACAGCGGAGTGAATCAGCTCGGTGGTGTCTTTGTCAACGGGCGGCCACTGCCGGACTCCACCCGGCAGAAGATTGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372-PAX6:NM_001127612:4
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (disopred):
C1=0.693 A=NA C2=0.101
Domain overlap (PFAM):
C1:
PF0029213=PAX=PU(0.1=0.0)
A:
NA
C2:
PF0029213=PAX=PU(34.4=97.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)