HsaEX0040439 @ hg19
Exon Skipping
Gene
ENSG00000122085 | MTERFD2
Description
MTERF domain containing 2 [Source:HGNC Symbol;Acc:28785]
Coordinates
chr2:242036658-242041747:-
Coord C1 exon
chr2:242041668-242041747
Coord A exon
chr2:242038811-242039309
Coord C2 exon
chr2:242036658-242036842
Length
499 bp
Sequences
Splice sites
3' ss Seq
TTTGGTCCTGTGTCTTACAGGTC
3' ss Score
11.77
5' ss Seq
AAGGTACAA
5' ss Score
6.82
Exon sequences
Seq C1 exon
GAAGGACGGGGGAGGACCGCTGCTTCCGGCGCCGTAACTGCTGCCATCTTCTCCGCGCTATGGCTGCGTTCGGCCGTCAG
Seq A exon
GTCCTTGATTGGCACCGCCTGATCCCCCTCACCTGGGCCTGTATGGCTAGGCAGACTCCTCATCTTGGAGAACAGAGAAGGACGACAGCTTCTTTGTTGCGCAAACTGACTACAGCCTCCAATGGAGGGGTCATTGAGGAGTTATCTTGTGTTAGATCCAATAACTATGTGCAGGAACCAGAGTGCAGGAGGAATCTTGTTCAGTGCCTCCTTGAGAAGCAGGGGACTCCTGTGGTACAAGGGTCCTTGGAGCTAGAGAGGGTCATGAGTTCCCTCCTGGACATGGGTTTCAGCAATGCCCATATTAATGAATTGCTCAGTGTACGGCGAGGTGCCAGTCTTCAACAGTTGCTGGACATCATTTCAGAATTTATTCTCTTGGGTCTGAATCCAGAGCCTGTGTGTGTGGTCTTGAAGAAAAGTCCCCAGTTATTGAAACTGCCTATTATGCAAATGAGGAAGCGCTCCAGTTACCTGCAAAAGCTTGGGCTTGGAGAAG
Seq C2 exon
GGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAATTTTCACCATGCGCCAGCAGGACATTAACGACACTGTCAGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTGCCCCTCTGTTCTTCGAGAGGACCTGGGTCAACTGGAATACAAGTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122085_MULTIEX1-2/9=C1-4
Average complexity
C1
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF025369=mTERF=PU(44.7=62.9)
C2:
PF025369=mTERF=PU(40.0=97.9)
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:
AAACTTGTATTCCAGTTGACCCAGG
Band lengths:
262-761
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)