Special

HsaEX0063564 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:HGNC Symbol;Acc:HGNC:30212]
Coordinates
chr17:63411998-63413634:+
Coord C1 exon
chr17:63411998-63412130
Coord A exon
chr17:63412680-63412709
Coord C2 exon
chr17:63413543-63413634
Length
30 bp
Sequences
Splice sites
3' ss Seq
GTTTTCTCCTTTCTTTGAAGGTT
3' ss Score
10.72
5' ss Seq
GAGGTATAT
5' ss Score
7.3
Exon sequences
Seq C1 exon
GTCCAGTTCCTGGTAGATCATGGGGCCATGATCGAGCACGTTGACTACAGTGGAATGCGCCCTTTGGATAGGGCAGTGGGGTGCCGGAACACTTCTGTTGTTGTCACTCTTCTGAAGAAAGGAGCCAAGATAG
Seq A exon
GTTGTCAGACGTTACCGAGTCGCCCACGAG
Seq C2 exon
GTCCAGCCACATGGGCGATGGCCACCTCCAAGCCAGACATCATGATCATCCTGTTGAGCAAGCTGATGGAAGAGGGGGACATGTTTTATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170921_CASSETTE4
Average complexity
S*
Mappability confidence:
100%=50=100%
Protein Impact

Alternative protein isoforms (No Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.032
Domain overlap (PFAM):

C1:
PF0002325=Ank=PD(45.5=33.3)
A:
NO
C2:
PF134141=TPR_11=PU(15.2=38.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCGGAACACTTCTGTTGTT
R:
CCCTCTTCCATCAGCTTGCTC
Band lengths:
128-158
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