Special

HsaINT0028659 @ hg19

Intron Retention

Gene
Description
collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:29426]
Coordinates
chr18:57106775-57107048:-
Coord C1 exon
chr18:57106909-57107048
Coord A exon
chr18:57106811-57106908
Coord C2 exon
chr18:57106775-57106810
Length
98 bp
Sequences
Splice sites
5' ss Seq
GTGGTCAGT
5' ss Score
4.85
3' ss Seq
CAGATCCTTTTGTATTACAGGGT
3' ss Score
7.04
Exon sequences
Seq C1 exon
GCTCACCAGGACCAAAGGGAAGCCCAGGCTTCCCCGGTATGCCAGGCCCTCCTGGGCAGCCCGGCCCACGGGGCTCAATGGGACCCATGGGACCATCTCCTGATCTGTCCCACATTAAGCAAGGCCGGAGGGGCCCTGTG
Seq A exon
GTCAGTATCTTATCAGAGATCCACTTCCTTTTTGGGGGAAAATGTGTTTTTGTCCCATGCTTTTGCCTGTGGTTAAACCAGATCCTTTTGTATTACAG
Seq C2 exon
GGTCCACCAGGGGCACCAGGAAGAGATGGTTCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183287-CCBE1:NM_133459:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(69.4=72.3),PF0139113=Collagen=PU(20.5=17.0)
A:
NA
C2:
PF0139113=Collagen=FE(28.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCACCAGGACCAAAGGGAAG
R:
GAACCATCTCTTCCTGGTGCC
Band lengths:
171-269
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