Special

HsaEX0063567 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:HGNC Symbol;Acc:HGNC:30212]
Coordinates
chr17:63415528-63427699:+
Coord C1 exon
chr17:63415528-63415674
Coord A exon
chr17:63418307-63418407
Coord C2 exon
chr17:63419999-63427699
Length
101 bp
Sequences
Splice sites
3' ss Seq
CACACCTATTGTAATGACAGGAT
3' ss Score
3.45
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
AAAGGTAAAGTAAAGGAAGCTGCCCAGCGCTACCAGTACGCCCTGAAGAAGTTCCCTAGAGAAGGGTTTGGTGAGGACTTGAAAACTTTCCGGGAACTAAAGGTGTCTCTCCTCCTCAACCTCTCTCGGTGTCGCAGGAAAATGAAC
Seq A exon
GATTTTGGAATGGCGGAGGAATTTGCTACTAAGGCCCTGGAGCTGAAACCGAAATCTTATGAAGCTTACTATGCGAGAGCAAGGGCAAAACGCAGCAGCAG
Seq C2 exon
ACAGTTCGCAGCAGCCTTAGAGGACCTGAACGAGGCCATCAAGCTGTGTCCCAACAACCGTGAGATCCAGAGACTTCTGCTGAGAGTGGAAGAAGAGTGTAGACAGATGCAGCAGCCACAGCAGCCACCGCCGCCACCGCAGCCTCAGCAGCAGTTGCCGGAAGAAGCAGAACCTGAGCCACAGCATGAAGACATATACTCTGTACAGGATATATTCGAGGAGGAGTACCTGGAACAGGATGTTGAAAATGTTTCCATTGGCCTCCAGACAGAGGCCCGGCCCAGCCAGGGGCTCCCGGTCATCCAGAGCCCACCCTCCTCTCCCCCGCATCGGGACTCAGCCTACATCTCCAGCTCACCTCTTGGCTCTCATCAGGTTTTTGACTTCCGGTCCAGTAGTTCTGTAGGCTCTCCCACTAGACAGACCTATCAGTCCACCTCACCTGCCCTTTCTCCAACTCATCAGAACTCACATTACAGGCCTAGCCCACCACACACTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170921-'75-81,'75-77,76-81
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.822
Domain overlap (PFAM):

C1:
PF134141=TPR_11=PU(22.4=30.6)
A:
PF134141=TPR_11=PD(20.3=47.1)
C2:
PF134141=TPR_11=PD(25.4=2.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTGTCGCAGGAAAATGAAC
R:
TGTTCCAGGTACTCCTCCTCG
Band lengths:
258-359
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