Special

HsaEX6024047 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:HGNC Symbol;Acc:HGNC:30212]
Coordinates
chr17:63406154-63412130:+
Coord C1 exon
chr17:63406154-63406277
Coord A exon
chr17:63411511-63411686
Coord C2 exon
chr17:63411998-63412130
Length
176 bp
Sequences
Splice sites
3' ss Seq
GCTATCACTTGCCTTTGCAGGTG
3' ss Score
10.48
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
ATTGTTGATCTTTTACTCACCCATGGAGCTGATGTCAACATGGCAGACAAGCAGGGCCGCACTCCCCTGATGATGGCTGCTTCCGAAGGCCATCTAGGAACCGTGGACTTTCTGCTTGCACAAG
Seq A exon
GTGCCTCCATTGCTCTTATGGACAAAGAAGGATTGACAGCCCTCAGCTGGGCTTGTTTGAAGGGCCATCTCTCAGTAGTACGTTCTCTGGTGGATAACGGAGCTGCCACAGACCATGCTGACAAGAATGGCCGTACCCCACTGGATCTGGCAGCTTTCTATGGCGATGCTGAGGTG
Seq C2 exon
GTCCAGTTCCTGGTAGATCATGGGGCCATGATCGAGCACGTTGACTACAGTGGAATGCGCCCTTTGGATAGGGCAGTGGGGTGCCGGAACACTTCTGTTGTTGTCACTCTTCTGAAGAAAGGAGCCAAGATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170921-'66-70,'66-69,67-70
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.048 A=0.085 C2=0.000
Domain overlap (PFAM):

C1:
PF127962=Ank_2=FE(44.1=100)
A:
PF127962=Ank_2=PD(43.0=67.8),PF0002325=Ank=PU(48.5=27.1)
C2:
PF0002325=Ank=PD(45.5=33.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACTCACCCATGGAGCTGATGT
R:
ATCTTGGCTCCTTTCTTCAGAAGA
Band lengths:
242-418
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains