Special

HsaEX0015248 @ hg19

Exon Skipping

Gene
Description
chimerin (chimaerin) 1 [Source:HGNC Symbol;Acc:1943]
Coordinates
chr2:175711608-175779899:-
Coord C1 exon
chr2:175779786-175779899
Coord A exon
chr2:175742568-175742856
Coord C2 exon
chr2:175711608-175711685
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_MULTIEX3-1/3=C1-3
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.023 A=0.216 C2=0.122
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),PF0231811=FYVE_2=PU(13.1=11.3)
C2:
PF0013017=C1_1=PU(5.7=3.6),PF0231811=FYVE_2=PU(22.3=25.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
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