Special

HsaEX0015642 @ hg19

Exon Skipping

Gene
ENSG00000172243 | CLEC7A
Description
C-type lectin domain family 7, member A [Source:HGNC Symbol;Acc:14558]
Coordinates
chr12:10277896-10280444:-
Coord C1 exon
chr12:10280346-10280444
Coord A exon
chr12:10279170-10279307
Coord C2 exon
chr12:10277896-10278047
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_MULTIEX2-3/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.217 C2=0.000
Domain overlap (PFAM):

C1:
PF139031=Claudin_2=FE(38.8=100),PF0033515=Tetraspannin=FE(24.6=100),PF0769011=MFS_1=FE(28.9=100),PF083915=Ly49=PU(36.8=82.4),PF059667=Chordopox_A33R=PU(20.5=73.5)
A:
PF139031=Claudin_2=PD(22.4=40.4),PF0033515=Tetraspannin=FE(34.3=100),PF0769011=MFS_1=FE(40.4=100),PF083915=Ly49=FE(60.5=100),PF059667=Chordopox_A33R=FE(37.7=100)
C2:
PF0033515=Tetraspannin=PD(35.1=92.2),PF0769011=MFS_1=PD(25.4=56.9),PF083915=Ly49=PD(1.3=2.0),PF059667=Chordopox_A33R=FE(41.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
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
This event
[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