Special

HsaEX0040672 @ hg38

Exon Skipping

Gene
Description
mechanistic target of rapamycin [Source:HGNC Symbol;Acc:HGNC:3942]
Coordinates
chr1:11228668-11232528:-
Coord C1 exon
chr1:11232436-11232528
Coord A exon
chr1:11231300-11231434
Coord C2 exon
chr1:11228668-11228918
Length
135 bp
Sequences
Splice sites
3' ss Seq
GTGTTCTTGTGCCTATCCAGGTG
3' ss Score
10.66
5' ss Seq
GAGGTAGGG
5' ss Score
7.81
Exon sequences
Seq C1 exon
GTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAG
Seq A exon
GTGGCTCTGTGGACCCTGGGACAGTTGGTGGCCAGCACTGGCTATGTAGTAGAGCCCTACAGGAAGTACCCTACTTTGCTTGAGGTGCTACTGAATTTTCTGAAGACTGAGCAGAACCAGGGTACACGCAGAGAG
Seq C2 exon
CTGACTATAGCACTAGTGAAATGCTGGTCAACATGGGAAACTTGCCTCTGGATGAGTTCTACCCAGCTGTGTCCATGGTGGCCCTGATGCGGATCTTCCGAGACCAGTCACTCTCTCATCATCACACCATGGTTGTCCAGGCCATCACCTTCATCTTCAAGTCCCTGGGACTCAAATGTGTGCAGTTCCTGCCCCAGGTCATGCCCACGTTCCTTAACGTCATTCGAGTCTGTGATGGGGCCATCCGGGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198793_MULTIEX3-1/2=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
NO
A:
PF118653=DUF3385=PU(17.0=64.4)
C2:
PF118653=DUF3385=FE(48.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACATGCTCCAGGATTCCT
R:
TTAAGGAACGTGGGCATGACC
Band lengths:
258-393
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development