Special

HsaEX0067883 @ hg19

Exon Skipping

Gene
Description
tetratricopeptide repeat domain 27 [Source:HGNC Symbol;Acc:25986]
Coordinates
chr2:32958895-32983586:+
Coord C1 exon
chr2:32958895-32958990
Coord A exon
chr2:32961761-32961883
Coord C2 exon
chr2:32983359-32983586
Length
123 bp
Sequences
Splice sites
3' ss Seq
TTTTTACTTGATTTTTCTAGCGC
3' ss Score
7.34
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
GCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAG
Seq A exon
CGCCAACTTGCAAGTTTGCTCTTTGAGTTGGGATGTACCAGTTCAGCCCTTCAGATATTTGAAAAGCTAGAAATGTGGGAAGATGTTGTCATTTGTTATGAAAGAGCCGGGCAGCACGGAAAG
Seq C2 exon
GCAGAAGAAATCCTTAGACAAGAGCTGGAGAAAAAAGAAACGCCTAGTTTATACTGCTTGCTTGGAGATGTCCTCGGAGACCATTCTTGCTATGACAAGGCCTGGGAGTTGTCCCGGTACCGCAGTGCTCGTGCTCAGCGCTCCAAAGCCCTCCTTCATCTTCGGAACAAGGAGTTTCAAGAGTGTGTAGAGTGCTTCGAACGCTCGGTTAAGATTAATCCCATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000018699_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.036
Domain overlap (PFAM):

C1:
NO
A:
PF132811=DUF4071=PU(32.7=87.8)
C2:
PF132811=DUF4071=PD(65.5=94.7),PF0051523=TPR_1=WD(100=44.7),PF134141=TPR_11=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAAGTACCACCTCACTGGGC
R:
TGGGATTAATCTTAACCGAGCGT
Band lengths:
251-374
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