HsaEX0013895 @ hg38
Exon Skipping
Gene
ENSG00000013725 | CD6
Description
CD6 molecule [Source:HGNC Symbol;Acc:HGNC:1691]
Coordinates
chr11:61008534-61011135:+
Coord C1 exon
chr11:61008534-61008845
Coord A exon
chr11:61009572-61009874
Coord C2 exon
chr11:61011070-61011135
Length
303 bp
Sequences
Splice sites
3' ss Seq
CCCCTGCCCCTTCCCTGCAGAGC
3' ss Score
12.38
5' ss Seq
CAGGTACCC
5' ss Score
8.63
Exon sequences
Seq C1 exon
AGAACCGCGCGCTGCGCCTGGTGGACGGTGGCGGCGCCTGCGCCGGCCGCGTGGAGATGCTGGAGCATGGCGAGTGGGGATCAGTGTGCGATGACACTTGGGACCTGGAGGACGCCCACGTGGTGTGCAGGCAACTGGGCTGCGGCTGGGCAGTCCAGGCCCTGCCCGGCTTGCACTTCACGCCCGGCCGCGGGCCTATCCACCGGGACCAGGTGAACTGCTCGGGGGCCGAAGCTTACCTGTGGGACTGCCCGGGGCTGCCAGGACAGCACTACTGCGGCCACAAAGAGGACGCGGGCGCGGTGTGCTCAG
Seq A exon
AGCACCAGTCCTGGCGCCTGACAGGGGGCGCTGACCGCTGCGAGGGGCAGGTGGAGGTACACTTCCGAGGGGTCTGGAACACAGTGTGTGACAGTGAGTGGTACCCATCGGAGGCCAAGGTGCTCTGCCAGTCCTTGGGCTGTGGAACTGCGGTTGAGAGGCCCAAGGGGCTGCCCCACTCCTTGTCCGGCAGGATGTACTACTCATGCAATGGGGAGGAGCTCACCCTCTCCAACTGCTCCTGGCGGTTCAACAACTCCAACCTCTGCAGCCAGTCGCTGGCAGCCAGGGTCCTCTGCTCAG
Seq C2 exon
CTTCCCGGAGTTTGCACAATCTGTCCACTCCCGAAGTCCCTGCAAGTGTTCAGACAGTCACTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000013725-'11-17,'11-14,14-17
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=0.000 C2=0.044
Domain overlap (PFAM):
C1:
PF0053013=SRCR=WD(100=92.4),PF151021=TMEM154=PU(12.7=9.5)
A:
PF0053013=SRCR=WD(100=92.2),PF151021=TMEM154=PU(19.4=17.6)
C2:
PF151021=TMEM154=FE(23.7=100)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGTGGAGATGCTGGAGC
R:
AGTGACTGTCTGAACACTTGCA
Band lengths:
326-629
Functional annotations
There are 1 annotated functions for this event
PMID: 17371992
Exon 5 skipping (CD6Deltad3) in the third SRCR (scavenger receptor cysteine-rich) domain causes a failure to localize in the immunological synapse and bind CD166.
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