HsaEX0015642 @ hg38
Exon Skipping
Gene
ENSG00000172243 | CLEC7A
Description
C-type lectin domain family 7 member A [Source:HGNC Symbol;Acc:HGNC:14558]
Coordinates
chr12:10125297-10127845:-
Coord C1 exon
chr12:10127747-10127845
Coord A exon
chr12:10126571-10126708
Coord C2 exon
chr12:10125297-10125448
Length
138 bp
Sequences
Splice sites
3' ss Seq
ATTATTGTTGGTATGTGAAGCTA
3' ss Score
1.12
5' ss Seq
CAGGCAAGG
5' ss Score
3.33
Exon sequences
Seq C1 exon
GATCGTGTGCTGCATCTCCTCCTTGGCGCCTCATTGCTGTAATTTTGGGAATCCTATGCTTGGTAATACTGGTGATAGCTGTGGTCCTGGGTACCATGG
Seq A exon
CTATTTGGAGATCCAATTCAGGAAGCAACACATTGGAGAATGGCTACTTTCTATCAAGAAATAAAGAGAACCACAGTCAACCCACACAATCATCTTTAGAAGACAGTGTGACTCCTACCAAAGCTGTCAAAACCACAG
Seq C2 exon
GGGTTCTTTCCAGCCCTTGTCCTCCTAATTGGATTATATATGAGAAGAGCTGTTATCTATTCAGCATGTCACTAAATTCCTGGGATGGAAGTAAAAGACAATGCTGGCAACTGGGCTCTAATCTCCTAAAGATAGACAGCTCAAATGAATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172243_MULTIEX1-3/6=1-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.217 C2=0.000
Domain overlap (PFAM):
C1:
PF0033515=Tetraspannin=FE(23.4=100),PF083915=Ly49=PU(35.0=82.4)
A:
PF0033515=Tetraspannin=FE(32.6=100),PF083915=Ly49=FE(57.5=100)
C2:
PF0033515=Tetraspannin=FE(35.5=100),PF083915=Ly49=PD(6.2=9.8),PF0005916=Lectin_C=PU(25.2=52.9)
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:
GATCGTGTGCTGCATCTCCTC
R:
TCATTTGAGCTGTCTATCTTTAGGA
Band lengths:
247-385
Functional annotations
There are 2 annotated functions for this event
PMID: 11567029
[Negative results]. The two major isoforms differ by the presence of a stalk region separating the carbohydrate recognition domain from the transmembrane region and are the only isoforms that are functional for beta-glucan binding.
PMID: 16622020
Overexpression of dectin1-1B results in significantly lower zymosan association compared to the overexpression of dectin-1A at 4?C, 25?C, and 30?C but similar zymosan association at 37?C.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development