HsaINT0102102 @ hg38
Intron Retention
Gene
ENSG00000172878 | METAP1D
Description
methionyl aminopeptidase type 1D, mitochondrial [Source:HGNC Symbol;Acc:HGNC:32583]
Coordinates
chr2:172063711-172065752:+
Coord C1 exon
chr2:172063711-172063860
Coord A exon
chr2:172063861-172065603
Coord C2 exon
chr2:172065604-172065752
Length
1743 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGCG
5' ss Score
2.19
3' ss Seq
TTCTTTATTTAACATTTTAGGTT
3' ss Score
9.96
Exon sequences
Seq C1 exon
CACATAAAGAAGCCAGACTATGTGACGACAGGCATTGTACCAGACTGGGGAGACAGCATAGAAGTTAAGAATGAAGATCAGATTCAAGGGCTTCATCAGGCTTGTCAGCTGGCCCGCCACGTCCTCCTCTTGGCTGGGAAGAGTTTAAAG
Seq A exon
GTGGCGTCTCACCAAGCCTCAGAACGACTTACATAAGGGGCAACAAACACTCCTCTTTTTTTCCTTCTCCTTAACTCTTCTTTTAGGTTGACATCTAATTTGTTTTAAAAATTTATTTGTTTTAAATTAATTTGTTTTTAAAAATTAAGTAAAGCCTTGGGATGGGGAAAAGGAATTTTATTATTTTATGTGTTTATTCAAGAAGTAATTTAAAATCCAAATTCAATTTTAACTAGCAGAATTCTAGAGATACTTTGGTCTCAGTCAACCTATCCAAGTTGATCAATGGCAGACAGCTTTGATTTTTGCCCCCCTACTCCTGCCTGTAGTTTCAGCTTTTACTCCCCACATTATTTCTGTGTGCTTGAAGATTTGCTCTACCTTGTCCTTTGTCTCCTATTTTCTTGCATTTGCCCTGCAAAGAAAGATCAGATCACATACACAAAGCTGTAGGTAATATAGCAGTGTAATTACATACAACTTCCTACTACAAGATTTAGTTCTTTTAGGCCAGGCGCAGTGACTCATGGCTGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCTACTGTACTCCAGTCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGATTTAGTTCTTTCATTTAGTTCTTTCATAATAATCTGAAGCACCCTTCTGTATAAGGATTATAAAAGAAAAATATGAGCCTATTTTCTGCCAAAAGGTGGGCAGAATTTAGGAAGTGAGACTCAAAGATAAAATCACTCACAGTATCTTCTGTGTAATAAACTTACAACACGGCTAAACATAATGTATATATACAAAATGAAGAAAATTATTGAAGAAATGGTTAATTTTTAATAAAAGATTTTATTTTTGTTTTAGAATTTTATTTATGTTTATGGAGTTTATGGAAATAGTCTTCATATACTTATAAAACTCAATTTCAGTTTTCTTTTAGTTTGGGAGCAATTTAGTTTGGAATACCTTTAGTAAGGAAAAAATATTTTAAAAATTACATTTATTTAGACATGAAAGAAATGAAGATTACTTAAAATCAAATCTCTACAAACTATATTAGACTCACTCTTTTAAATATCAACCATAATCTCTGTGCCATTGCTGCAAAACCCCTGTAATGTTTTACTGAGATAAAAAGATGCGAGTTGACCTACTTTTCAAGCTTTTCAAGGTTCAACTGATGAACCTTTTGAGCATTTATTCACATGCGCTGGGTAGCCCAGGGCACCAATCATTGAGAAAGAGTAAGGAATTGCCGAAGAACATAATTTTGAAATCCTCAGGCCAAAAGGGAGTTATGTCATTTAATGACTCACAAATGATTTAGAGGATCGTAGGGTTTAACATTTCTATTTCCTAATGGTCCATAACACCATCATATGCCCAAATGATTGTCCACAAGGCACAGTTGAGGATTCTAACACTAATCATAATTAATTCAAATGTTGTACCATAACTTTATCATAGTAAATTTATACAGTCTCACATGGAAGTACTGTTGCTATAGCATAGTTGATAAATACAAGAAATGTCTTCAATTGTTGCTGCACAATTTCTTTATTTAACATTTTAG
Seq C2 exon
GTTGACATGACAACTGAAGAGATAGATGCTCTTGTTCATCGGGAAATCATCAGTCATAATGCCTATCCCTCACCTCTAGGCTATGGAGGTTTTCCAAAATCTGTTTGTACCTCTGTAAACAACGTGCTCTGTCATGGTATTCCTGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172878:ENST00000315796:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0055719=Peptidase_M24=PU(13.3=42.0)
A:
NA
C2:
PF0055719=Peptidase_M24=FE(21.5=100)
Main Inclusion 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:
TAAAGAAGCCAGACTATGTGACGAC
R:
TGTCAGGAATACCATGACAGAGC
Band lengths:
294-2037
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains