Special

HsaEX0001111 @ hg38

Exon Skipping

Gene
ENSG00000172878 | METAP1D
Description
methionyl aminopeptidase type 1D, mitochondrial [Source:HGNC Symbol;Acc:HGNC:32583]
Coordinates
chr2:172061498-172066306:+
Coord C1 exon
chr2:172061498-172061655
Coord A exon
chr2:172063711-172063860
Coord C2 exon
chr2:172066264-172066306
Length
150 bp
Sequences
Splice sites
3' ss Seq
TTCAATCCTTTTTCCTCAAGCAC
3' ss Score
4.89
5' ss Seq
AAGGTGGCG
5' ss Score
2.19
Exon sequences
Seq C1 exon
GTTCTCATAGAATTTTCTCTTCACCACTCAATCATATCTACTTACACAAGCAGTCAAGCAGTCAACAAAGAAGAAATTTCTTTTTTCGGAGACAAAGAGATATTTCACACAGTATAGTTTTGCCGGCTGCAGTTTCTTCAGCTCATCCGGTTCCTAAG
Seq A exon
CACATAAAGAAGCCAGACTATGTGACGACAGGCATTGTACCAGACTGGGGAGACAGCATAGAAGTTAAGAATGAAGATCAGATTCAAGGGCTTCATCAGGCTTGTCAGCTGGCCCGCCACGTCCTCCTCTTGGCTGGGAAGAGTTTAAAG
Seq C2 exon
TCGACCTCTTCAGGATGGAGATATTATCAACATTGATGTCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172878_MULTIEX1-1/2=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0055719=Peptidase_M24=PU(13.3=42.0)
C2:
PF0055719=Peptidase_M24=FE(6.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTCATAGAATTTTCTCTTCACCAC
R:
TGATAATATCTCCATCCTGAAGAGGT
Band lengths:
186-336
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