HsaEX6065126 @ hg38
Exon Skipping
Gene
ENSG00000110848 | CD69
Description
CD69 molecule [Source:HGNC Symbol;Acc:HGNC:1694]
Coordinates
chr12:9754587-9756419:-
Coord C1 exon
chr12:9756297-9756419
Coord A exon
chr12:9755062-9755261
Coord C2 exon
chr12:9754587-9754690
Length
200 bp
Sequences
Splice sites
3' ss Seq
AAGCATTTTTCTGTTCACAGTGG
3' ss Score
5.72
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
ATGATGCCACCAGTCCCCATTTCTCAACACGTCATGAAGGGTCCTTCCAAGTTCCTGTCCTGTGTGCTGTAATGAATGTGGTCTTCATCACCATTTTAATCATAGCTCTCATTGCCTTATCAG
Seq A exon
TGGGCCAATACAATTGTCCAGGCCAATACACATTCTCAATGCCATCAGACAGCCATGTTTCTTCATGCTCTGAGGACTGGGTTGGCTACCAGAGGAAATGCTACTTTATTTCTACTGTGAAGAGGAGCTGGACTTCAGCCCAAAATGCTTGTTCTGAACATGGTGCTACTCTTGCTGTCATTGATTCTGAAAAGGACATG
Seq C2 exon
AACTTTCTAAAACGATACGCAGGTAGAGAGGAACACTGGGTTGGACTGAAAAAGGAACCTGGTCACCCATGGAAGTGGTCAAATGGCAAAGAATTTAACAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110848_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.214 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0005916=Lectin_C=PU(28.4=40.3)
C2:
PF0005916=Lectin_C=FE(35.8=100)
Main Skipping Isoform:
NA
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:
GATGCCACCAGTCCCCATTTC
R:
TGTTAAATTCTTTGCCATTTGACCAC
Band lengths:
221-421
Functional annotations
There are 1 annotated functions for this event
PMID: 9287313
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis. ELM ID: ELMI000125; ELM sequence: NAC; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains