HsaEX0040441 @ hg19
Exon Skipping
Gene
ENSG00000122085 | MTERFD2
Description
MTERF domain containing 2 [Source:HGNC Symbol;Acc:28785]
Coordinates
chr2:242033692-242041747:-
Coord C1 exon
chr2:242041668-242041747
Coord A exon
chr2:242036658-242036842
Coord C2 exon
chr2:242033692-242033847
Length
185 bp
Sequences
Splice sites
3' ss Seq
CTTTTTTGAATGTTCTGCAGGGA
3' ss Score
8.77
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GAAGGACGGGGGAGGACCGCTGCTTCCGGCGCCGTAACTGCTGCCATCTTCTCCGCGCTATGGCTGCGTTCGGCCGTCAG
Seq A exon
GGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAATTTTCACCATGCGCCAGCAGGACATTAACGACACTGTCAGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTGCCCCTCTGTTCTTCGAGAGGACCTGGGTCAACTGGAATACAAGTTTCAG
Seq C2 exon
CAGCCTCGTCTTACAGCGTGACTGCAAAGAAAAAGACTTTTGTTTTGCAAAAGAAAAGCAGCTCGGTGACTCCGTCCACATCGCCACAGTTGAGTCAGATGGCAGTGGCAGTCCTTTGCCAGTGGAAGGAGTTCCTGCTAAGGGGAGGTGCAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122085_MULTIEX1-4/9=C1-6
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.022
Domain overlap (PFAM):
C1:
NO
A:
PF025369=mTERF=PU(40.0=97.9)
C2:
PF025369=mTERF=PD(20.7=43.4)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGGACGGGGGAGGACC
R:
CTCCTGCACCTCCCCTTAGC
Band lengths:
236-421
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)