Special

HsaALTD0000688-2/2 @ hg19

Alternative 5'ss

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23653884-23655208:+
Coord C1 exon
chr22:23653884-23654023
Coord A exon
chr22:23654024-23654105
Coord C2 exon
chr22:23655074-23655208
Length
82 bp
Sequences
Splice sites
5' ss Seq
CAGGCATGT
5' ss Score
2.05
3' ss Seq
CATTTCCGTGCTCTTTCCAGATA
3' ss Score
10.19
Exon sequences
Seq C1 exon
GAGAGAGAGGTCCAAGGTGCCCTACATCGTGCGCCAGTGCGTGGAGGAGATCGAGCGCCGAGGCATGGAGGAGGTGGGCATCTACCGCGTGTCCGGTGTGGCCACGGACATCCAGGCACTGAAGGCAGCCTTCGACGTCA
Seq A exon
GTGAGTGTTGGCCTGCGCAGGACGGGATGGAGGTGTGGGCAATGGTGTCCGCGATGAGATCTCAGAGTGCTCCATGGCCCAG
Seq C2 exon
ATAACAAGGACGTGTCGGTGATGATGAGCGAGATGGACGTGAACGCCATCGCAGGCACGCTGAAGCTGTACTTCCGTGAGCTGCCCGAGCCCCTCTTCACTGACGAGTTCTACCCCAACTTCGCAGAGGGCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-42-50,43-50-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact

ORF disruption when splice site is used (sequence inclusion)

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

C1:
PF0062022=RhoGAP=PU(26.1=83.3)
A:
NA
C2:
PF0062022=RhoGAP=FE(29.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGTCCAAGGTGCCCTACATC
R:
CCATCTCGCTCATCATCACCG
Band lengths:
169-251
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