Special

HsaEX6012852 @ hg38

Exon Skipping

Gene
Description
tetratricopeptide repeat domain 27 [Source:HGNC Symbol;Acc:HGNC:25986]
Coordinates
chr2:32758292-32817557:+
Coord C1 exon
chr2:32758292-32758616
Coord A exon
chr2:32786984-32787149
Coord C2 exon
chr2:32817457-32817557
Length
166 bp
Sequences
Splice sites
3' ss Seq
TAAAATTTGACCTTCAATAGAGT
3' ss Score
3.84
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
GCAGAAGAAATCCTTAGACAAGAGCTGGAGAAAAAAGAAACGCCTAGTTTATACTGCTTGCTTGGAGATGTCCTCGGAGACCATTCTTGCTATGACAAGGCCTGGGAGTTGTCCCGGTACCGCAGTGCTCGTGCTCAGCGCTCCAAAGCCCTCCTTCATCTTCGGAACAAGGAGTTTCAAGAGTGTGTAGAGTGCTTCGAACGCTCGGTTAAGATTAATCCCATGCAGGTTAGACAACTCATAACCCCCTGCTGCTCTCAGCGCTTGTGCTGTTCTTTGGATTTGATCTTACAGAATGAGTACCCATTTTCTAACCTGATAACTG
Seq A exon
AGTAAAAGCTTTTAGAACTTTACAAGAAGCTCTCAAGTGTAACTATGAACACTGGCAGATTTGGGAAAACTACATCCTCACCAGCACTGACGTTGGGGAATTTTCAGAAGCCATTAAAGCTTATCACCGGCTCTTGGACTTACGTGACAAATACAAAGATGTTCAG
Seq C2 exon
TGGCCATAAAATGCAGTAAAAACAAATCCAGTTCCCAAGAAGCTGTACAAATGCTTTCTTCTGTTCGACTCAATTTACGGGGCTTGTTATCTAAAGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000018699_MULTIEX1-5/8=C1-8
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.027 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF132811=DUF4071=FE(85.4=100),PF0051523=TPR_1=WD(100=44.2)
A:
PF134141=TPR_11=PD(22.4=26.8)
C2:
PF061226=TraH=FE(22.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000317907fB7386


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:
GCTCCAAAGCCCTCCTTCATC
R:
AAGCATTTGTACAGCTTCTTGGGA
Band lengths:
242-408
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains