HsaEX0001108 @ hg38
Exon Skipping
Gene
ENSG00000172878 | METAP1D
Description
methionyl aminopeptidase type 1D, mitochondrial [Source:HGNC Symbol;Acc:HGNC:32583]
Coordinates
chr2:172070907-172079262:+
Coord C1 exon
chr2:172070907-172071070
Coord A exon
chr2:172077797-172077894
Coord C2 exon
chr2:172079215-172079262
Length
98 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGGTCACTTTTAAAGCCA
3' ss Score
5.5
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
GTCTATTACAATGGCTACCATGGAGACACCTCTGAAACATTTTTGGTGGGCAATGTGGACGAATGTGGTAAAAAGTTAGTGGAGGTTGCCAGGAGGTGTAGAGATGAAGCAATTGCAGCTTGCAGAGCAGGGGCTCCCTTCTCTGTAATTGGAAACACAATCAG
Seq A exon
CCACATAACTCATCAGAATGGTTTTCAAGTCTGTCCACATTTTGTGGGACATGGAATAGGATCTTACTTTCATGGACATCCAGAAATTTGGCATCATG
Seq C2 exon
CAAACGACAGTGATCTACCCATGGAGGAGGGCATGGCATTCACTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172878_MULTIEX2-2/2=C1-C2
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=0.118
Domain overlap (PFAM):
C1:
PF0055719=Peptidase_M24=FE(23.7=100)
A:
PF0055719=Peptidase_M24=FE(14.5=100)
C2:
PF0055719=Peptidase_M24=FE(7.0=100)
Main Skipping Isoform:
ENST00000315796fB80
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:
TTTTGGTGGGCAATGTGGACG
R:
TAGTGAATGCCATGCCCTCCT
Band lengths:
169-267
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