HsaEX0040442 @ hg19
Exon Skipping
Gene
ENSG00000122085 | MTERFD2
Description
MTERF domain containing 2 [Source:HGNC Symbol;Acc:28785]
Coordinates
chr2:242033692-242036842:-
Coord C1 exon
chr2:242036658-242036842
Coord A exon
chr2:242035808-242035853
Coord C2 exon
chr2:242033692-242033847
Length
46 bp
Sequences
Splice sites
3' ss Seq
AGTGTGTTTGTGTCTTCCAGTAT
3' ss Score
7.91
5' ss Seq
AGAGTGAGT
5' ss Score
7.36
Exon sequences
Seq C1 exon
GGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAATTTTCACCATGCGCCAGCAGGACATTAACGACACTGTCAGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTGCCCCTCTGTTCTTCGAGAGGACCTGGGTCAACTGGAATACAAGTTTCAG
Seq A exon
TATGCATACTTCAGGATGGGAATTAAGCATCCAGACATTGTAAAGA
Seq C2 exon
CAGCCTCGTCTTACAGCGTGACTGCAAAGAAAAAGACTTTTGTTTTGCAAAAGAAAAGCAGCTCGGTGACTCCGTCCACATCGCCACAGTTGAGTCAGATGGCAGTGGCAGTCCTTTGCCAGTGGAAGGAGTTCCTGCTAAGGGGAGGTGCAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122085_MULTIEX1-5/9=4-6
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.394 C2=0.022
Domain overlap (PFAM):
C1:
PF025369=mTERF=PU(40.0=97.9)
A:
PF025369=mTERF=FE(13.5=100)
C2:
PF025369=mTERF=PD(20.7=43.4)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTTCGAGAGGACCTGGGTC
R:
TGACTCAACTGTGGCGATGTG
Band lengths:
138-184
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)