Special

HsaEX6016134 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 [Source:HGNC Symbol;Acc:HGNC:29364]
Coordinates
chr2:159185791-159232659:+
Coord C1 exon
chr2:159185791-159185899
Coord A exon
chr2:159228796-159228901
Coord C2 exon
chr2:159231058-159232659
Length
106 bp
Sequences
Splice sites
3' ss Seq
GTATTTCTTGTCGACACCAGGAC
3' ss Score
6.47
5' ss Seq
ACCGTCTGT
5' ss Score
-0.97
Exon sequences
Seq C1 exon
GAACGGGCACGCGCTCTTGGCATTCATGTTCTCGCGTCAGGAGGGCAAGTTGAACCGCCAGCAGACCATGGAGCTTGGCCACCACATCCTGAAGGCGCACATTTTCAAG
Seq A exon
GACTTTGGCATGGCAGAGGAATTTGCTTCCAAGGCTCTCGAATTGAAGCCCAAGTCCTATGAAGCCTTTTATGCCAGAGCAAGAGCGAAGAGAAATAGCAGGTACC
Seq C2 exon
TCCTGGTGGTAAATTAAATAGTTTTTTTCATCAGAAAAATTATTTTTTAGCCATTTTTTTTCTTTGGGGTGGATCTGATGCCATTGATATATCTAAAATGTGGGATAAAACTTCTTTAATAGCTAGAAATCACCATAAATAAGAATGCTAAACAGAATTGAAAATTATATCAACTTAAAATTTTAAGACAGCCCAGAAGACATTAATGACTCTCACTTATGAAATTGTTTGGCTTTTGCCACTTTCTTCCTTGCCTTTGCTATATGGTAGAATCACAGAACTTACTTAGAGAATAAATATGTCTATTGTTCAAGAGTAACAGGTTTAACTCATGACCAAGTGATGTACATCCAAGTGATGTATTCTGGAAACGATGGAATTTTACAGTTACAGTTCCATTGAGTCAAATCCCATTTTATATATACATAAAAATTAAGTTCTGAGTGAGTTCTAGCTAAATATAAGTGCGACTGTAAACGCAGCCAATTTTTTTAAGCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115183_MULTIEX2-13/13=C1-C2
Average complexity
C3*
Mappability confidence:
95%=95=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.906
Domain overlap (PFAM):

C1:
NO
A:
PF134141=TPR_11=PD(20.0=47.1),PF134281=TPR_14=PU(31.8=41.2)
C2:
PF134281=TPR_14=PD(65.9=6.1)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000263635fB27531


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGGCCACCACATCCTGAAG
R:
AGTCATTAATGTCTTCTGGGCTGT
Band lengths:
247-353
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains