Special

HsaEX0013069 @ hg38

Exon Skipping

Gene
ENSG00000153237 | CCDC148
Description
coiled-coil domain containing 148 [Source:HGNC Symbol;Acc:HGNC:25191]
Coordinates
chr2:158340598-158456753:-
Coord C1 exon
chr2:158456415-158456753
Coord A exon
chr2:158358449-158358570
Coord C2 exon
chr2:158340598-158340680
Length
122 bp
Sequences
Splice sites
3' ss Seq
TCTATTTTTATGACTAATAGATA
3' ss Score
4.08
5' ss Seq
AAGGTTAGA
5' ss Score
6.12
Exon sequences
Seq C1 exon
ATAGAGACCGATGCTGTTCAGCGCGAGAGGGCCTGGAGAGGGTGGGTGTGAGAGAGAAGGTGTCTCAGGTCTCGGGCGCGGGAGGGGGTGGCGGAGAGGACAGGGAGATTCCCCAGCGCTGGCTCTGAAATCTGGGGCAGGCTTTCCTTGCCTTACTGCCAATCCCAACTGTGCCTGGTAGGGTTTGTCCCTGGCGTCAAAGGTAGGAACAGCTGAGCCCTTAGATGTACCCCTGACGGCGAGAGCCCAGGAGTGGGCGTTTCACTTTTCCTGCGTTTGGGGAGTCCCTGAGGCTATGCCCTTTGACCTTTGACATGTGTGCAGCTTCTGCTTCTCCAG
Seq A exon
ATAATCTGGTATTCCATATGAAAAATGAGATGAGAAACATCAAGTACAAACCAGTAGACTATCAACAATTGCGTGCATTAACTGAAGCAAAGAAATTGGCTTCTGCCTCTGCAAAGCTAAAG
Seq C2 exon
ATGTAAAATGGAATCTGAAATAAAATCCCTTCTCAATGAAGAGAACATTGGAAATGAATGTCTTTGTGACCTTACAAATTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153237_MULTIEX1-5/18=C1-9
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.172 A=0.031 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACTGCCAATCCCAACTGTGC
R:
GTCACAAAGACATTCATTTCCAATGT
Band lengths:
256-378
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development