Special

HsaEX0068063 @ hg38

Exon Skipping

Gene
ENSG00000175764 | TTLL11
Description
tubulin tyrosine ligase like 11 [Source:HGNC Symbol;Acc:HGNC:18113]
Coordinates
chr9:121974884-122039368:-
Coord C1 exon
chr9:122039272-122039368
Coord A exon
chr9:121989565-121989770
Coord C2 exon
chr9:121974884-121974979
Length
206 bp
Sequences
Splice sites
3' ss Seq
ATCCTTTTTTCCCCCTCCAGGTT
3' ss Score
11.8
5' ss Seq
TCTGTATGT
5' ss Score
3.86
Exon sequences
Seq C1 exon
TTCCCATTTGGCCGGCGCTTGCCTTGTGACATCTACTGGCATGGAGTTTCATTTCACGACAATGACATATTCTCCGGTCAAGTGAACAAGTTTCCAG
Seq A exon
GTTCAAATGGTGAAAGACGATGACCCCTCCTGGAAGCCCACTTTTATCGTGAAACCTGATGGTGGTTGTCAGGGTGATGGAATCTACCTCATTAAAGACCCCAGTGACATCCGCCTGGCAGGGACCCTCCAGAGCAGGCCAGCGGTGGTCCAGGAGTACATCTGCAAACCTCTCCTTATCGACAAGCTCAAGTTTGATATTCGTCT
Seq C2 exon
ATTTTAGGCTTTGACATTCTTCTAATGAAAAATCTGAAGCCTATACTACTTGAAGTAAATGCAAATCCCAGTATGAGAATCGAACATGAGCACGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175764_MULTIEX1-2/6=C1-4
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.048 A=0.023 C2=0.016
Domain overlap (PFAM):

C1:
PF0313310=TTL=PU(4.6=42.4)
A:
PF0313310=TTL=PD(76.3=88.5)
C2:
PF0313310=TTL=FE(10.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATTTGGCCGGCGCTTG
R:
TCGTGCTCATGTTCGATTCTCA
Band lengths:
189-395
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development