HsaEX6012853 @ hg38
Exon Skipping
Gene
ENSG00000018699 | TTC27
Description
tetratricopeptide repeat domain 27 [Source:HGNC Symbol;Acc:HGNC:25986]
Coordinates
chr2:32758292-32817557:+
Coord C1 exon
chr2:32758292-32758616
Coord A exon
chr2:32782626-32782678
Coord C2 exon
chr2:32817457-32817557
Length
53 bp
Sequences
Splice sites
3' ss Seq
TGTGTTCTCTATCATTTCAGAAT
3' ss Score
10.5
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GCAGAAGAAATCCTTAGACAAGAGCTGGAGAAAAAAGAAACGCCTAGTTTATACTGCTTGCTTGGAGATGTCCTCGGAGACCATTCTTGCTATGACAAGGCCTGGGAGTTGTCCCGGTACCGCAGTGCTCGTGCTCAGCGCTCCAAAGCCCTCCTTCATCTTCGGAACAAGGAGTTTCAAGAGTGTGTAGAGTGCTTCGAACGCTCGGTTAAGATTAATCCCATGCAGGTTAGACAACTCATAACCCCCTGCTGCTCTCAGCGCTTGTGCTGTTCTTTGGATTTGATCTTACAGAATGAGTACCCATTTTCTAACCTGATAACTG
Seq A exon
AATGCTGAAGCTTGGAACAATTTGTCAACTTCCTATATCCGATTAAAACAAAA
Seq C2 exon
TGGCCATAAAATGCAGTAAAAACAAATCCAGTTCCCAAGAAGCTGTACAAATGCTTTCTTCTGTTCGACTCAATTTACGGGGCTTGTTATCTAAAGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000018699_MULTIEX1-4/8=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=FE(25.4=100)
C2:
PF061226=TraH=FE(22.8=100)
Main Skipping Isoform:
ENST00000317907fB7386
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAACTCATAACCCCCTGCTGC
R:
ACAGCTTCTTGGGAACTGGAT
Band lengths:
137-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains