HsaEX0001109 @ hg38
Exon Skipping
Gene
ENSG00000172878 | METAP1D
Description
methionyl aminopeptidase type 1D, mitochondrial [Source:HGNC Symbol;Acc:HGNC:32583]
Coordinates
chr2:172066264-172077894:+
Coord C1 exon
chr2:172066264-172066306
Coord A exon
chr2:172070907-172071070
Coord C2 exon
chr2:172077797-172077894
Length
164 bp
Sequences
Splice sites
3' ss Seq
AAATTTCTGCTTATGTTTAGGTC
3' ss Score
6.75
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
TCGACCTCTTCAGGATGGAGATATTATCAACATTGATGTCACA
Seq A exon
GTCTATTACAATGGCTACCATGGAGACACCTCTGAAACATTTTTGGTGGGCAATGTGGACGAATGTGGTAAAAAGTTAGTGGAGGTTGCCAGGAGGTGTAGAGATGAAGCAATTGCAGCTTGCAGAGCAGGGGCTCCCTTCTCTGTAATTGGAAACACAATCAG
Seq C2 exon
CCACATAACTCATCAGAATGGTTTTCAAGTCTGTCCACATTTTGTGGGACATGGAATAGGATCTTACTTTCATGGACATCCAGAAATTTGGCATCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172878-'18-23,'18-18,20-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0055719=Peptidase_M24=FE(6.1=100)
A:
PF0055719=Peptidase_M24=FE(23.7=100)
C2:
PF0055719=Peptidase_M24=FE(14.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGACCTCTTCAGGATGGAGA
R:
TGATGCCAAATTTCTGGATGTCCA
Band lengths:
139-303
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development