Special

HsaEX0013895 @ hg19

Exon Skipping

Gene
Description
CD6 molecule [Source:HGNC Symbol;Acc:1691]
Coordinates
chr11:60776006-60778607:+
Coord C1 exon
chr11:60776006-60776317
Coord A exon
chr11:60777044-60777346
Coord C2 exon
chr11:60778542-60778607
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-'3-4,'3-3,4-4
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=0.000
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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
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
This event
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