Special

HsaEX0015669 @ hg19

Exon Skipping

Gene
Description
CAP-GLY domain containing linker protein 1 [Source:HGNC Symbol;Acc:10461]
Coordinates
chr12:122845506-122862507:-
Coord C1 exon
chr12:122861936-122862507
Coord A exon
chr12:122848530-122848654
Coord C2 exon
chr12:122845506-122845728
Length
125 bp
Sequences
Splice sites
3' ss Seq
TTAACCTTCTCTTCTTCCAGGTT
3' ss Score
12.36
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
AATTTGTGGATGACTTTCGAGTTGGGGAGCGAGTTTGGGTGAATGGAAATAAGCCTGGATTTATCCAGTTTCTTGGAGAAACCCAGTTTGCACCAGGCCAGTGGGCTGGAATTGTTTTAGATGAACCCATAGGCAAGAACGATGGTTCGGTGGCAGGAGTTCGGTATTTCCAGTGTGAACCTTTAAAGGGCATATTTACCCGACCTTCAAAGTTAACAAGGAAGGTGCAAGCAGAAGATGAAGCTAATGGCCTGCAGACAACGCCCGCCTCCCGAGCTACTTCACCGCTGTGCACTTCTACGGCCAGCATGGTGTCTTCCTCCCCCTCCACCCCTTCAAACATCCCTCAGAAACCATCACAGCCAGCAGCAAAGGAACCTTCAGCTACGCCTCCGATCAGCAACCTTACAAAAACTGCCAGTGAATCTATCTCCAACCTTTCAGAGGCTGGCTCAATCAAGAAAGGAGAAAGAGAGCTCAAAATCGGAGACAGAGTATTG
Seq A exon
GTTGGTGGCACTAAGGCTGGTGTAGTCCGGTTTCTTGGGGAGACCGACTTTGCCAAGGGGGAGTGGTGTGGCGTGGAGTTAGATGAGCCACTTGGGAAGAATGATGGCGCTGTTGCTGGAACAAG
Seq C2 exon
GTATTTTCAGTGTCAACCCAAATATGGCTTGTTCGCTCCTGTCCACAAAGTTACCAAGATTGGCTTCCCTTCCACTACACCAGCCAAAGCCAAGGCCAACGCAGTGAGGCGAGTGATGGCGACCACGTCCGCCAGCCTGAAGCGCAGCCCTTCTGCCTCTTCCCTCAGCTCCATGAGCTCAGTGGCCTCCTCTGTGAGCAGCAGGCCCAGTCGGACAGGACTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130779_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.597 A=0.048 C2=0.490
Domain overlap (PFAM):

C1:
PF0130220=CAP_GLY=WD(100=34.6),PF0130220=CAP_GLY=PU(7.6=2.6)
A:
PF0130220=CAP_GLY=FE(62.1=100)
C2:
PF0130220=CAP_GLY=PD(27.3=24.0),PF058526=DUF848=PU(29.2=44.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTCAGAAACCATCACAGCC
R:
TTGGCTTTGGCTGGTGTAGTG
Band lengths:
250-375
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development