Special

HsaEX0034249 @ hg19

Exon Skipping

Gene
ENSG00000144320 | KIAA1715
Description
KIAA1715 [Source:HGNC Symbol;Acc:21610]
Coordinates
chr2:176844538-176860374:-
Coord C1 exon
chr2:176860286-176860374
Coord A exon
chr2:176856959-176857146
Coord C2 exon
chr2:176844538-176844596
Length
188 bp
Sequences
Splice sites
3' ss Seq
GAATAATTTTCTCTTAACAGGAA
3' ss Score
9.4
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
CTGTGAATTCCTTTGGACAATTGATGATATTTATCATTGTGCCCAGTTTCTACAAATAAAAGATGGGTGGATTATTTTCTCGATGGAGG
Seq A exon
GAAATTCAAGCATTGGAAGAATTTAGGGAAAAAAATCAGAGATTACAAAAATTATGGGTTGGAAGATTAATTCTGTATTCCTCAGTTCTCTATCTGTTTACATGCTTAATTGTATATTTGTGGTATCTTCCTGATGAATTTACAGCAAGACTTGCCATGACACTCCCATTTTTTGCTTTTCCATTGAT
Seq C2 exon
CATCTGGAGCATAAGAACAGTAATTATTTTCTTCTTTTCCAAGAGAACAGAAAGAAATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_MULTIEX1-3/4=C1-4
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.005 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF083957=7tm_7=PU(5.0=77.8)
A:
PF083957=7tm_7=FE(44.6=100)
C2:
PF083957=7tm_7=FE(14.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGAATTCCTTTGGACAATTGA
R:
TTTCTTTCTGTTCTCTTGGAAAAGA
Band lengths:
146-334
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