HsaEX0001110 @ hg38
Exon Skipping
Gene
ENSG00000172878 | METAP1D
Description
methionyl aminopeptidase type 1D, mitochondrial [Source:HGNC Symbol;Acc:HGNC:32583]
Coordinates
chr2:171999583-172063860:+
Coord C1 exon
chr2:171999583-172000009
Coord A exon
chr2:172061498-172061655
Coord C2 exon
chr2:172063711-172063860
Length
158 bp
Sequences
Splice sites
3' ss Seq
ATGTCTGTTTCTGCTCACAGGTT
3' ss Score
10.96
5' ss Seq
AAGGTACTG
5' ss Score
8.56
Exon sequences
Seq C1 exon
ATGTTGAACACTAGATTGTGCTTTATTTTTTCCGCCCAACTTCACGTTTCCATGCACCAAAATGTTGATGCTATAAATATTGGATGCCACGCTTACCTGACAGGCTTCTTCCATCCCACCTGGGCGCGGGGGCTCAGAGCGAGCGCGCGAGCCGCGGCTGGAGCCCGCCTCTCGCGGCTGGAGAGGACTCAGCCGGCCGCGGGTTCTGCTGCTTGCCCGGGTGCCCTAGCCGCTTCCCAGCCAGGGCTCCCGCAGTCAGCCCCGCGCGCGCACGCGCGCTCCCCTCGGGCGGCCTCGACGCCTCAGGGCTTCGGCAGGGCTGCGACTGGCCGGCTCCAGCGGGCGGGGCGGCGAGCGAGTGCTCGCGGCCACGTGACCGACGCCAACATGGCGGCGCCCAGTGGCGTCCACCTGCTCGTCCGCAGAG
Seq A exon
GTTCTCATAGAATTTTCTCTTCACCACTCAATCATATCTACTTACACAAGCAGTCAAGCAGTCAACAAAGAAGAAATTTCTTTTTTCGGAGACAAAGAGATATTTCACACAGTATAGTTTTGCCGGCTGCAGTTTCTTCAGCTCATCCGGTTCCTAAG
Seq C2 exon
CACATAAAGAAGCCAGACTATGTGACGACAGGCATTGTACCAGACTGGGGAGACAGCATAGAAGTTAAGAATGAAGATCAGATTCAAGGGCTTCATCAGGCTTGTCAGCTGGCCCGCCACGTCCTCCTCTTGGCTGGGAAGAGTTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172878-'0-10,'0-8,10-10
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:
NO
A:
NO
C2:
PF0055719=Peptidase_M24=PU(13.3=42.0)
Main Skipping Isoform:
ENST00000315796fB19824
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTAGCCGCTTCCCAGCCAG
R:
CCCAGTCTGGTACAATGCCTG
Band lengths:
251-409
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