HsaINT0035043 @ hg38
Intron Retention
Gene
ENSG00000128656 | CHN1
Description
chimerin 1 [Source:HGNC Symbol;Acc:HGNC:1943]
Coordinates
chr2:174811511-174812482:-
Coord C1 exon
chr2:174812309-174812482
Coord A exon
chr2:174811589-174812308
Coord C2 exon
chr2:174811511-174811588
Length
720 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
TAACTAGTTTTATTTTTCAGGTC
3' ss Score
9.39
Exon sequences
Seq C1 exon
ATTGTGGTTTGAATGTTCATAAGCAGTGTTCCAAGATGGTCCCAAATGACTGTAAGCCAGACTTGAAGCATGTCAAAAAGGTGTACAGCTGTGACCTTACGACGCTCGTGAAAGCACATACCACTAAGCGGCCAATGGTGGTAGACATGTGCATCAGGGAGATTGAGTCTAGAG
Seq A exon
GTGAGCCATTTGCAGTGCGGGTTGCAGTGGTCTCCGTTCACTACCAGTACCAATCCTGATGCCTTTTGGGTACCTCATTGCACAATACGGTTGTCTTCTGTAATTTGGAGGGGAATGGTTTCATATGTCAAATGATCTCAAAGACTGAAATGAATTAATTTAACAATTAAATAGCTTGATTTCAAGGTACATTTAACTAAGTGTAGCCAATGTGCTTGTATAAAAATATATTTATAGATGATGCTTCCAGTCTGCAAAAGTTGACAGGTAAAGACAAATTCATTTTTCAGTTTTTAAATTTTTCTTTGGTTCAAAAAGCAAAAGTATAAATGCTCTACTAAAACTATCTATAAAGCCAAAAACAGAGCTGCATCCTAATTATTCTTTCCCACTTGAGAAAAACAGGCCTATATTTTATCTTAGTCTTCTGTTATGTAAAAGAATTTATGATGTAATTGGGGTGATGAATTATTTCCCTTAAGACTTAACATATTTCACTTAATTAGACCAAATGATGAGCCAGATGATATTCAGGTGACAATAGGTAAGAGTTAAAGAACTGTGTGTGAAATCGTTTTATTCTAGGAGAAGAGTGTGAAAAGATTTCTAAACATGTATATTTTATTTCTTCTGACACATTACCTCCCAGCTTAAAGTGTGAGGAGTTAAAATCTGAAGAAAAGGCATAATTCAAAGAAACTAACTAGTTTTATTTTTCAG
Seq C2 exon
GTCTTAATTCTGAAGGACTATACCGAGTATCAGGATTTAGTGACCTAATTGAAGATGTCAAGATGGCTTTCGACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128656:ENST00000409900:9
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:
PF0013017=C1_1=PD(60.6=33.9),PF087466=zf-RING-like=PD(69.4=42.4),PF0062022=RhoGAP=PU(12.0=23.7)
A:
NA
C2:
PF0062022=RhoGAP=FE(16.9=100)
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:
GTGGTTTGAATGTTCATAAGCAGTGT
R:
TCTGTCGAAAGCCATCTTGACA
Band lengths:
248-968
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