HsaEX0070271 @ hg19

Exon Skipping

Gene

ENSG00000134215 | VAV3

Description

vav 3 guanine nucleotide exchange factor [Source:HGNC Symbol;Acc:12659]

Coordinates

chr1:108185241-108247272:-

Coord C1 exon

chr1:108247172-108247272

Coord A exon

chr1:108231003-108231028

Coord C2 exon

chr1:108185241-108185377

Length

26 bp

Sequences

Splice sites

3' ss Seq

AATTTTTACATTTCTTTCAGAAC

3' ss Score

8.91

5' ss Seq

GAGGTAAGA

5' ss Score

10.06

Exon sequences

Seq C1 exon

GGGAACATTTTATCAAGGCTATTTATGTTTTAAGTGTGGAGCGAGAGCACACAAAGAATGTTTGGGAAGAGTAGACAATTGTGGCAGAGTTAATTCTGGTG

Seq A exon

AACAAGGGACACTCAAACTACCAGAG

Seq C2 exon

GTTTACCAAAGATGCAGGTCATTAGGAACTATTCTGGAACACCACCCCCAGCTCTGCATGAAGGACCCCCTTTACAGCTCCAGGCCGGGGATACCGTTGAACTTCTGAAAGGAGATGCACACAGTCTGTTTTGGCAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000134215_MULTIEX1-1/4=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=0.000 A=0.771 C2=0.489

Domain overlap (PFAM):

C1:

PF0013017=C1_1=PD(58.5=88.6),PF144461=Prok-RING_1=FE(63.0=100),PF0063014=Filamin=FE(10.8=100)

A:

PF144461=Prok-RING_1=PD(9.3=55.6),PF0063014=Filamin=FE(2.5=100)

C2:

PF144461=Prok-RING_1=PD(2.0=2.2),PF0765312=SH3_2=PU(71.2=91.3)

Main Inclusion Isoform:

ENSP00000432865

Main Skipping Isoform:

ENSP00000431544

Other Inclusion Isoforms:

ENSP00000359073, ENSP00000359073f10709A, ENSP00000359073f4751A, ENSP00000360912, ENSP00000394897, ENSP00000432540, ENSP00000433559, ENSP00000434944

Other Skipping Isoforms:

NA

Associated events

HsaEX0070272

Other assemblies

hg38

Conservation

Mouse

(mm10)

chr3:109574106-109574131

HIGH PSI

MmuEX0051295

(Vav3)

Mouse

(mm9)

chr3:109377024-109377049

ALTERNATIVE

MmuEX0051295

(Vav3)

Rat

(rn6)

chr2:212482975-212483000

HIGH PSI

RnoEX0097891

(Vav3)

Cow

(bosTau6)

chr3:35715119-35715144

HIGH PSI

BtaEX0039581

(VAV3)

Chicken

(galGal4)

chr8:1036991-1037013

HIGH PSI

GgaEX1062993

(VAV3)

Chicken

(galGal3)

No conservation detected

Zebrafish

(danRer10)

chr2:16383113-16383135

HIGH PSI

DreEX6026192

(vav3b)

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

GGGAAGAGTAGACAATTGTGGCA

R:

CTGGAGCTGTAAAGGGGGTCC

Band lengths:

121-147

Functional annotations

(Submit an annotation)

There are 0 annotated functions for this event

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS

The Cancer Genome Atlas (TCGA)
Genotype-Tissue Expression Project (GTEx)
Autistic and control brains
Pre-implantation embryo development

Other AS DBs:

FasterDB (Includes CLIP-seq data)

AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)

APPRIS (Selection of principal isoform)

DEU primates (Only for human)

Special

HsaEX0070271 @ hg19

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS