HsaINT1007648 @ hg38
Intron Retention
Gene
ENSG00000106069 | CHN2
Description
chimerin 2 [Source:HGNC Symbol;Acc:HGNC:1944]
Coordinates
chr7:29507228-29509406:+
Coord C1 exon
chr7:29507228-29507365
Coord A exon
chr7:29507366-29509300
Coord C2 exon
chr7:29509301-29509406
Length
1935 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
ATCATGCGTGAACTTCACAGAAA
3' ss Score
4.09
Exon sequences
Seq C1 exon
ATGGTGAAAAGGCCGATATATCTGCCAATGTCTATCCAGACATAAACATCATCACTGGAGCCCTTAAACTGTATTTCAGAGACTTACCCATCCCTGTCATCACATATGATACCTATTCCAAATTTATAGATGCAGCAA
Seq A exon
GTAAGTACTTCAAATTAATTTTTTATTTCTACCAAATTTTTAAGTACAGTGCTTTTGACCTTCAGATAATTAAAACTCAGAACTGTTTAAATTATTGCATTTGTGCCTGTCTTGTCAAGTGAGGGCACAACAATAAATAGCTGACCAGGCATAGTTCAACAGCTGAGCTGAACCAGTTCTAAGAACTCTGTGGGCTGATGTATGTGTCAGGCAGTTCTGTCCACATTGTTCCTTGTATGCTGGGAACCAACACAGTCAGGCCTATTATATGTTGAAAGCATGAATATTTCTGTAGCAGAAAAAAAAGTCTTCAATGAGGACTGACTAGATCATGGGTATCCAATCTTTTGTCTTCCCTGGACCACATTGGAAGAAGAATGATTGTCTTGGGCCACACATAAAATATACTAACATTAATGATAGCTTTAATGATAATTTTAAATAATTTTTAAAATAAATTATTTTAAAATCTTATAATGTTTTAAGGTTTACAAATTTGTGCTGGGCCATGTTCAAAGCTGTCCTGGGCATGTGCGGCCCATAGGCTGCGGGTTAGACAAGCTTGGTCTAGATTAACTACTTTTATCTGTTAGGCAGAATTTCATTCCTAGTCAGTTAAAGTCACAAGCAAGTTTTGTCTATTGATGCTGTTCAAAATGAATAGAGGGCCAGAATACACTGTGTCAAGCAGTATACTAGAACGTCTCACCAGTTTAATTCTCTCATGTACCCCATGTGGCAAATATTATAATCCCATTTTACAAAGAAGAAAAGCAAGGCTTGGAGAGCTGAGCTCATGCGTCCAGGAATGGGACATCAGGATTTGCTTTCCATCAGCCCGGGGTTGCTCATTCAGTGTTTGGCACTTGGGCCCACTGCTGAGGGAGAGAGGAATAGAGTGAAAAGGGGGCAGGTCTGGGGGAAGGGGCTACACTTTGCCCAGGAAGAGTCAAAAGTGACCAAAGGTAGATTCAGATGCTGAGACACATGACACGGAAGTCAAGCTCACTTTGAGGAAGTTTTTGCTTGTTGTTGTTGTTGTTGTTTTTATTTAAAAAAAAAAAAAAAACCTTTAAAGGTTGAAAAGTTTAGGCATGCTGTTAAATGTAGTAATGAGATGCCTGATGGGGAGACACAAAGGCAGGCTGGGATCAGTGTGAGATGCACTTTTCGGATGAGCTGAGGCCCTGACCCCGGTAAGACTATTCCCTCCTTCCGGGGCCCTAGTGGTCCTGGCAAAGAAGGTTCTAGCATCTAGATATCCTCTACTCCAGGAGGAATAGCAGGAGGGTTTTCTTTGAGTAGCTGCCAGTACCTATCAGAGACCCAAAAGCCAGAAGCATGTACTCTTCCTCCCATTGTTAATGTGTCCAGTCTCCACTTCCTAACCTGGGCTGTGCACCGGGGTTAAGTATGCCAACGCCACGGTGAGAAGTGCCATGAGTGCAGGCTGAGTTGGGTGGCTCATTGCCAATGTCCTTGCCTTGTAAAATGTATTAGGTTGTAGAAGTCCGCCAGGGAAAGACTCATTAGACAACTGCAAGGCAATACTACCGTATGTGGTGCAGTTTAAATTAAAACTTGTGAGAGGGATATTTCTAGCAAATCTAGTGTTCAGAAGAAGGCAAAGCATAGTCTGCACATATGCTCCCTGACTGTAAGCATTCTGCTGGTTTACAGATTCATGGAGGGCAAGGACAGTGTCCAGCCTCTGGCCACCCAGAGGACATTCAATAAGCATGTGGTGCTCAGCCTCAAACTCTTTCCTGAATGACACAGGACACCAACAAATTGATTAAGTGAAACAGTGCTTGGATTGCATGAATTTATTAGAATCCTTCCCCACTTCTGGCTAAAACAAAAACTTCTTGTTACTTCTCTGAAAACTTGAATGCCACACTCTGAACTAATACCCATCATGCGTGAACTTCACAG
Seq C2 exon
AAATCTCCAATGCAGATGAGAGGCTGGAAGCCGTCCATGAAGTGCTGATGCTGCTGCCTCCTGCCCACTATGAAACCCTCCGGTACCTAATGATCCACCTCAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106069:ENST00000222792:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062022=RhoGAP=PD(36.9=92.3)
A:
NA
C2:
PF0062022=RhoGAP=PD(38.5=94.6)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGAAAAGGCCGATATATCTGC
R:
GAGGTGGATCATTAGGTACCGGA
Band lengths:
238-2173
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains