HsaEX0015248 @ hg38
Exon Skipping
Gene
ENSG00000128656 | CHN1
Description
chimerin 1 [Source:HGNC Symbol;Acc:HGNC:1943]
Coordinates
chr2:174846880-174915171:-
Coord C1 exon
chr2:174915058-174915171
Coord A exon
chr2:174877840-174878128
Coord C2 exon
chr2:174846880-174846957
Length
289 bp
Sequences
Splice sites
3' ss Seq
TTCCCATTTCATTGAGGCAGATT
3' ss Score
2.52
5' ss Seq
AGGGTAAGC
5' ss Score
9.04
Exon sequences
Seq C1 exon
GTTTCATGGCATGATCTCCAGAGAAGCAGCCGACCAGCTCTTGATTGTGGCTGAGGGGAGCTACCTCATCCGGGAGAGCCAGCGGCAGCCAGGGACCTACACTTTGGCTTTAAG
Seq A exon
ATTTGGAAGTCAAACCAGAAACTTCAGGCTCTACTACGATGGCAAGCACTTTGTTGGGGAGAAACGCTTTGAGTCCATCCACGATCTGGTGACTGATGGCTTGATTACTCTCTATATTGAAACCAAGGCAGCAGAATACATTGCCAAGATGACGATAAACCCAATTTATGAGCACGTAGGATACACAACCTTAAACAGAGAGCCAGCATACAAAAAACATATGCCAGTCCTGAAAGAGACACATGATGAGAGAGATTCTACAGGCCAGGATGGGGTGTCAGAGAAAAGG
Seq C2 exon
TTGACATCACTTGTTAGAAGAGCAACTCTGAAAGAAAACGAGCAAATTCCAAAATATGAAAAGATTCACAATTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128656_MULTIEX1-5/10=4-7
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.025 A=0.222 C2=0.151
Domain overlap (PFAM):
C1:
PF0001719=SH2=PU(53.5=97.4)
A:
PF0001719=SH2=PD(45.1=33.0),PF0013017=C1_1=PU(2.0=1.0)
C2:
PF0231811=FYVE_2=FE(24.0=100),PF0013017=C1_1=PU(5.7=11.5)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCATGATCTCCAGAGAAGC
R:
TCTTTTCATATTTTGGAATTTGCTCG
Band lengths:
172-461
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development