Special

HsaEX6024051 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:HGNC Symbol;Acc:HGNC:30212]
Coordinates
chr17:63389308-63398914:+
Coord C1 exon
chr17:63389308-63389544
Coord A exon
chr17:63395743-63395928
Coord C2 exon
chr17:63398821-63398914
Length
186 bp
Sequences
Splice sites
3' ss Seq
CTCCTGTCCTCTCCTCTTAGGTG
3' ss Score
11.77
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GTCAGCCGACTGCTGATTTTGGGAGGTGCCAATATTAATTACCGGACAGAGGTTTTAAATAATGCTCCAATTCTATGTGTTCAGTCCCATCTTGGTTACACAGAAATGGTAGCCCTGCTGCTGGAGTTCGGGGCCAACGTGGATGCCTCTTCTGAAAGTGGCCTGACTCCCCTGGGATATGCTGCAGCAGCAGGGTACCTGAGCATTGTGGTGCTGCTGTGCAAGAAACGGGCCAAG
Seq A exon
GTGGATCATTTGGATAAGAACGGGCAGTGTGCTTTGGTTCATGCTGCACTCCGAGGTCATCTGGAGGTTGTCAAGTTTTTGATTCAGTGTGACTGGACGATGGCCGGCCAGCAGCAAGGAGTATTTAAGAAGAGCCATGCCATCCAACAGGCCCTCATTGCTGCAGCCAGCATGGGTTATACTGAG
Seq C2 exon
ATTGTCTCCTACCTACTTGATCTTCCAGAAAAAGATGAAGAGGAAGTAGAGCGAGCACAGATCAACAGCTTTGACAGTCTCTGGGGAGAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170921-'49-63,'49-61,57-63
Average complexity
C1
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=0.000
Domain overlap (PFAM):

C1:
PF127962=Ank_2=PU(20.4=25.3)
A:
PF127962=Ank_2=PD(4.3=6.5),PF0002325=Ank=WD(100=41.9)
C2:
PF127962=Ank_2=PD(14.3=43.8),PF0002325=Ank=PU(12.1=12.5)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000389520fB27539


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGTTCAGTCCCATCTTGGT
R:
TCCCCAGAGACTGTCAAAGCT
Band lengths:
249-435
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains