HsaINT0002220 @ hg38
Intron Retention
Gene
ENSG00000157766 | ACAN
Description
aggrecan [Source:HGNC Symbol;Acc:HGNC:319]
Coordinates
chr15:88836200-88839046:+
Coord C1 exon
chr15:88836200-88836276
Coord A exon
chr15:88836277-88838662
Coord C2 exon
chr15:88838663-88839046
Length
2386 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
ACCCCACCTCTCCCACACAGACC
3' ss Score
8.95
Exon sequences
Seq C1 exon
GTGAACTATGACCACTTTACTCTGGGTTTTCGTGACTCTGAGGGTCATCACTGCAGCTGTCACTGTAGAAACTTCAG
Seq A exon
GTGAGGACATTCCTATACATGTTTCACGTATTCAGTAGGCATGAGTAGTGGGTTTGAGTACTGGGTACTGAACCTGGTGCTACTGGTCCCAGGGATATAATTTCCCCTTTCCTGGACTTTTCCTGGCCCCACCCTTCCCCTGTTGATGCATGCATAACTGTGATGGGATAGCACCCATGCGCGGGCACACTCTTGCAGGAGCCTTGCTCAGATAACACTGCTCCTGACTGCCCTCAAGCCCCGACAGCTGGCAGGGAGAGCTCCCGGCAGGTGCCCTCCTTCCCTCCATGGATCTCAGTGAGGACTGCTGCGCACTGAGCTTGCCGGAGGGGCAGGACATAGACAAACCAGTGGAGAAAGGACCATTGAGGGAGGATCGGCTGGAGCACCAAAGAAGAAAGGTCACTTGGGAGACAGCCAGAGAAAAGCCCCAGGGAATCAGACAGGTCTTTGCCTTTTCTGCAAACCATCCTCGGGAAGCCCCAGCCTGGTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCAGGGCCTGCATGGGTCCATCCTCCTACGGGGACACCATACCCCTGGTGGGAGCCACCCTGGGCCCAAGGGAGGGGCCAAGGAGTGGCTGTTTGTATGGGGTGTGGGCAGAGCAGGGCTGTGGGGCTGAGATAAGCACAGCAGCACATGAGACCCCCTCACAGTGCAGTCAGTGTGGGAAAAAGAAGGCGGCCCAGCTCCCCATGCTCCCACCCAGCCACTACAGCCCAAGGCAAAACACCAAGTAATCCAAGAATTCTGAATTTAAATCTGTGCTTTCAGGTCATTTTGAAAGGTACCATTGTCAAATAGGAAGATAGGACATAGAACTTAACAATCTGTTGGCCTGATTTACAACTTTTGCATCTGTAGACATATGGGACAAGGGCCTTCATTTGTACTGTTGCTGGGAGACCCACAGCCATGCAGCCCCTGGCTGTACCCAGGGGTGGTCCGCCCACACAGGGAAACCAGTTCATTAGGTTTGAGTGGGGCTTTAAAAACTGCTGAGCTGGGCACGACAGTCCCTTTCAGCTCTCCCCTGAGAACCACTACTGCTAAAACCAAGCCATGTCCAGGGTGCGAGGGCCCAGCACTCGGAGGAAGATGCCTGTGGAAGGGGCCAGTGGGACTGCCCAGGACATCAGAAGGTTAAGGCCTGGACTCTAAGCATTCCTCGCTCCCCTCCCCTTGCCCTGTGATGTATCTACAACCCACAAATATCTGAAACATTTTTTATTTCAACCTGTAGGCCCCCATGAAAGAACAGGTTTCATAAATGTATGAGTCTCCATGAAAGGTGCTTTTTTTTTTTTTTTGGAAAGCTGTTTTTTTTCTTTTTTTTTTTTCCCCATTCCCAGCAGATCTTTTGTTTCTAACAAGATTTGGTAAGCTTGTTGCACCTCCTCTATTGACACTCTCCATTATATTAACATGTTTGGAGTCTGATCCTATCCCATCGCCTCTCCTGCATCTGACTGTTTGCACACCAAAAGGTCTGATCTTCTCGGATGCTTCTCCACCTGAGTCCCCTGACTCCCAAACAGCAGAAGAGAGTGACTTGTCCCGGTGGCAAAATCAGGCTCGCACCCAAAAGCAGACCTCCCCAAATGGGACACATCTTAGAAGTTTTCTGTCTCAGCTTTAAAATTGTGTAGATTACTTTTCTACCCCAACATAATTTTTCCCAAAATCTTTGAGTTAAGCTGTCACTCCAAGGAGATGGGTCCTGTTTTATTCCACGCTTTGGTGCCCACTGCAGTACCCCAGTTTGAGAAACAGGGAGTTGGTCCTGACTCTGACGTCTCCCCTCCCTCCTCTGGAATCCTTTTCTAGCTCCATAGTTTCTGTCTCGAGATGCAGAGGCCAGGGGTCTTGAGGAACACTGCTCTGGAAAGGGCGTGGCAAGCCTTTCTGGGAATTCCCACATGACACGGGAGCATCCCCATCATAGAGACAGACACACTCATCGGATTTCGCTCTCTCAGGAGAGTGCATTGCTGGAAGGATGGATGGGGAGGCGGGGTGGTCCTCTCTAGGCACTAACAGGTCTCTCTTCTACCCCACCTCTCCCACACAG
Seq C2 exon
ACCATGACAACTCGCTGAGTGTCAGCATCCCCCAACCGTCCCCGCTGAGGGTCCTCCTGGGGACCTCCCTCACCATCCCCTGCTATTTCATCGACCCCATGCACCCTGTGACCACCGCCCCTTCTACCGCCCCACTGGCCCCAAGAATCAAGTGGAGCCGTGTGTCCAAGGAGAAGGAGGTAGTGCTGCTGGTGGCCACTGAAGGGCGCGTGCGGGTCAACAGTGCCTATCAGGACAAGGTCTCACTGCCCAACTACCCGGCCATCCCCAGTGACGCCACCTTGGAAGTCCAGAGCCTGCGCTCCAATGACTCTGGGGTCTACCGCTGCGAGGTGATGCATGGCATCGAGGACAGCGAGGCCACCCTGGAAGTCGTGGTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157766:ENST00000558207:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.031
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0768612=V-set=WD(100=95.3),PF0019312=Xlink=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
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