Special

HsaEX0040441 @ hg38

Exon Skipping

Gene
ENSG00000122085 | MTERF4
Description
mitochondrial transcription termination factor 4 [Source:HGNC Symbol;Acc:HGNC:28785]
Coordinates
chr2:241095130-241099894:-
Coord C1 exon
chr2:241099396-241099894
Coord A exon
chr2:241097243-241097427
Coord C2 exon
chr2:241095130-241096438
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
GTCCTTGATTGGCACCGCCTGATCCCCCTCACCTGGGCCTGTATGGCTAGGCAGACTCCTCATCTTGGAGAACAGAGAAGGACGACAGCTTCTTTGTTGCGCAAACTGACTACAGCCTCCAATGGAGGGGTCATTGAGGAGTTATCTTGTGTTAGATCCAATAACTATGTGCAGGAACCAGAGTGCAGGAGGAATCTTGTTCAGTGCCTCCTTGAGAAGCAGGGGACTCCTGTGGTACAAGGGTCCTTGGAGCTAGAGAGGGTCATGAGTTCCCTCCTGGACATGGGTTTCAGCAATGCCCATATTAATGAATTGCTCAGTGTACGGCGAGGTGCCAGTCTTCAACAGTTGCTGGACATCATTTCAGAATTTATTCTCTTGGGTCTGAATCCAGAGCCTGTGTGTGTGGTCTTGAAGAAAAGTCCCCAGTTATTGAAACTGCCTATTATGCAAATGAGGAAGCGCTCCAGTTACCTGCAAAAGCTTGGGCTTGGAGAAG
Seq A exon
GGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAATTTTCACCATGCGCCAGCAGGACATTAACGACACTGTCAGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTGCCCCTCTGTTCTTCGAGAGGACCTGGGTCAACTGGAATACAAGTTTCAG
Seq C2 exon
TATGCATACTTCAGGATGGGAATTAAGCATCCAGACATTGTAAAGAGTGAGTACTTGCAGTATTCACTAACCAAGATTAAGCAGAGACACATTTACCTGGAGCGCCTGGGACGGTACCAAACCCCTGATAAGAAGGGGCAGACACAGATCCCTAACCCATTGCTCAAGGACATTCTCAGAGTTTCAGAAGCTGAGTTTTTGGCCAGGACAGCCTGTACTTCTGTTGAGGAGTTTCAAGTTTTTAAGAAGCTCCTGGCTCGGGAGGAGGAGGAGTCTGAGAGCAGCACATCTGATGACAAAAGGGCAAGTCTGGATGAGGATGAGGATGACGATGATGAGGAGGACAATGATGAGGATGACAATGATGAGGATGACGATGATGAGGACGACGACGAGGCGGAGGACAATGATGAGGATGAGGACGACGACGAGGAGGAATAGCTGTGATGGAAGGACTAGAGCGAAAGGGCCCAGAGATATCAAGGAAGCTTTTCATTCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122085-'4-14,'4-9,11-14
Average complexity
C2
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=0.464
Domain overlap (PFAM):

C1:
PF025369=mTERF=PU(44.7=62.9)
A:
PF025369=mTERF=PU(40.0=97.9)
C2:
PF025369=mTERF=PD(28.5=45.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGTGTGTGTGGTCTTGAA
R:
GGATCTGTGTCTGCCCCTTCT
Band lengths:
255-440
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