Special

HsaEX6016135 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 [Source:HGNC Symbol;Acc:HGNC:29364]
Coordinates
chr2:159224232-159227965:+
Coord C1 exon
chr2:159224232-159224364
Coord A exon
chr2:159225688-159225779
Coord C2 exon
chr2:159227819-159227965
Length
92 bp
Sequences
Splice sites
3' ss Seq
AATGCGTGTTTGTTTTGCAGGAA
3' ss Score
10.94
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GTGCTGTACCTGGTGGAGAAGGGAGCCGTGATCGAGCATGTGGACCACAGCGGGATGCGGCCCTTGGACAGAGCCATCGGCTGCCGGAACACATCTGTAGTGGTGGCGCTACTCAGAAAGGGAGCCAAGTTAG
Seq A exon
GAAATGCTGCTTGGGCGATGGCCACTTCCAAACCTGATATCTTGATTATACTTTTACAGAAATTAATGGAGGAAGGAAATGTGATGTACAAA
Seq C2 exon
AAAGGGAAAATGAAAGAGGCAGCCCAGAGGTACCAGTATGCCTTAAGAAAGTTTCCTCGAGAAGGATTCGGAGAGGACATGAGACCCTTCAATGAATTAAGGGTTTCCCTCTATCTCAATTTGTCGCGATGCCGAAGAAAAACAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115183-'80-72,'80-69,82-72
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=0.000
Domain overlap (PFAM):

C1:
PF0002325=Ank=PD(45.5=33.3)
A:
PF134141=TPR_11=PU(16.2=41.9)
C2:
PF134141=TPR_11=FE(60.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000263635fB27531


Other Inclusion Isoforms:
NA


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:
ATCTGTAGTGGTGGCGCTACT
R:
CTTCGGCATCGCGACAAATTG
Band lengths:
178-270
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains