HsaEX0040444 @ hg38
Exon Skipping
Gene
ENSG00000122085 | MTERF4
Description
mitochondrial transcription termination factor 4 [Source:HGNC Symbol;Acc:HGNC:28785]
Coordinates
chr2:241089980-241094432:-
Coord C1 exon
chr2:241094277-241094432
Coord A exon
chr2:241090278-241090449
Coord C2 exon
chr2:241089980-241090044
Length
172 bp
Sequences
Splice sites
3' ss Seq
ACTCTTCATCATTATTTTAGAGT
3' ss Score
7.75
5' ss Seq
TGTGTAGGC
5' ss Score
-1.07
Exon sequences
Seq C1 exon
CAGCCTCGTCTTACAGCGTGACTGCAAAGAAAAAGACTTTTGTTTTGCAAAAGAAAAGCAGCTCGGTGACTCCGTCCACATCGCCACAGTTGAGTCAGATGGCAGTGGCAGTCCTTTGCCAGTGGAAGGAGTTCCTGCTAAGGGGAGGTGCAGGAG
Seq A exon
AGTGTACTCCTTCTACTTATGAAAAAAAGTTAACTATAAAATGGCCTCAGGCAGGTCCTTCAGGAGGTTTCCAGAAGAAGGCATCATTGTCACAGGAGGTGGCAGCTCCATGTGTGTTACTGGGACACGATGTGGAAGTGGAAGAAGGTGACATGGATGATCCTGCCCCTGT
Seq C2 exon
GACTAATTTATTATTGTGCAACTGCCAGTCCTGCGCATTCCAGCTACGCTAAGCGCCCTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122085-'23-24,'23-22,27-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.022 A=0.080 C2=0.145
Domain overlap (PFAM):
C1:
PF025369=mTERF=PD(20.7=43.4)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCCTCGTCTTACAGCGTG
R:
GTAGCTGGAATGCGCAGGAC
Band lengths:
203-375
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