HsaEX0040047 @ hg38
Exon Skipping
Gene
ENSG00000153029 | MR1
Description
major histocompatibility complex, class I-related [Source:HGNC Symbol;Acc:HGNC:4975]
Coordinates
chr1:181052235-181061938:+
Coord C1 exon
chr1:181052235-181052510
Coord A exon
chr1:181053573-181053677
Coord C2 exon
chr1:181055225-181061938
Length
105 bp
Sequences
Splice sites
3' ss Seq
TCTCATTTGCTTGCTTTCAGAAT
3' ss Score
9.96
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
AGCCCCCACTGGTCAGAGTAAATCGCAAAGAAACTTTTCCAGGGGTTACAGCTCTCTTCTGCAAAGCTCATGGCTTTTACCCCCCAGAAATTTACATGACATGGATGAAAAACGGGGAAGAAATTGTCCAAGAAATTGATTATGGAGACATTCTTCCCAGTGGGGATGGAACCTATCAGGCGTGGGCATCAATTGAGCTTGATCCTCAGAGCAGCAACCTTTACTCCTGTCATGTGGAGCACTGCGGTGTCCACATGGTTCTTCAGGTCCCCCAGG
Seq A exon
AATCAGAAACTATCCCTCTTGTGATGAAAGCTGTCTCTGGGTCCATTGTCCTTGTCATTGTGCTGGCTGGAGTTGGTGTTCTAGTCTGGAGAAGAAGGCCCCGAG
Seq C2 exon
AGCAAAATGGAGCCATCTACCTTCCAACACCAGATCGATGATTGCAGATCCCTCTTTTCCAGTTCTCCTTCCTCTAGGAGCCATGTTATCCTCTGTCCCCCATAGAGTCAAGCCTAGTGCTTGAAGGTCCTGACGACACCCACAACATACATGAGAGTAATGGGATTGAGCATTTATGGCAGCAACAGAGGAGCCACAAAATGTTCTTTGTTCTTTGGCTCCAAAAAGACTGTCAGCTTTCAGTCTCTTTTGATGGACTGTTTTATCAGAGTTGACTTTAAATACAGCTTGTCTCATGACACAACGCTTCCCTACATTCTATTTGTCAATGATGATTTGCAACTAGTTGGAGATTCTCAGAGCAGGAAGGAATCTTTTCAACCAGAGCAGGAACTGTCTTCTGCAATGCCTTGGACTTGAGCCTCCAGCCTCCACTTGAACACCATGTGAAGGGAACCTCAGTACTTCATAAAATGGCCTTTCTCATTCATCTTTCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153029-'13-14,'13-12,14-14
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=0.000 C2=0.187
Domain overlap (PFAM):
C1:
PF0765410=C1-set=WD(100=88.2)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTGTCATGTGGAGCACTG
R:
TTTGTGGCTCCTCTGTTGCTG
Band lengths:
253-358
Functional annotations
There are 1 annotated functions for this event
PMID: 32963314
[Negative results]. Expression of pCI:MR1CRFP (skipping of HsaEX0040046 and HsaEX0040047) pre or post induction of MR1A expression did not impact MR1A-mediated expression or antigen presentation, indicating this was not a general consequence of transfection.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development