HsaEX0051855 @ hg38

Exon Skipping

Gene

ENSG00000161800 | RACGAP1

Description

Rac GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:9804]

Coordinates

chr12:50005256-50016719:-

Coord C1 exon

chr12:50016631-50016719

Coord A exon

chr12:50006434-50006636

Coord C2 exon

chr12:50005256-50005392

Length

203 bp

Sequences

Splice sites

3' ss Seq

AAGATTCCCCCTTTCCTCAGAAT

3' ss Score

7.53

5' ss Seq

CTGGTGTGT

5' ss Score

4.96

Exon sequences

Seq C1 exon

AAAGATGGATACTATGATGCTGAATGTGCGGAATCTGTTTGAGCAGCTTGTGCGCCGGGTGGAGATTCTCAGTGAAGGAAATGAAGTCC

Seq A exon

AATTTATCCAGTTGGCGAAGGACTTTGAGGATTTCCGTAAAAAGTGGCAGAGGACTGACCATGAGCTGGGGAAATACAAGGATCTTTTGATGAAAGCAGAGACTGAGCGAAGTGCTCTGGATGTTAAGCTGAAGCATGCACGTAATCAGGTGGATGTAGAGATCAAACGGAGACAGAGAGCTGAGGCTGACTGCGAAAAGCTG

Seq C2 exon

GAACGACAGATTCAGCTGATTCGAGAGATGCTCATGTGTGACACATCTGGCAGCATTCAACTAAGCGAGGAGCAAAAATCAGCTCTGGCTTTTCTCAACAGAGGCCAACCATCCAGCAGCAATGCTGGGAACAAAAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000161800_MULTIEX2-6/8=5-7

Average complexity

S*

Mappability confidence:

100%=100=100%

Protein Impact

ORF disruption upon sequence exclusion

No structure available

Features

Disorder rate (Iupred):

C1=0.000 A=0.026 C2=0.305

Domain overlap (PFAM):

C1:

PF111803=DUF2968=PU(23.4=89.7),PF078886=CALCOCO1=PU(16.0=69.0),PF140731=Cep57_CLD=PU(15.3=65.5)

A:

PF111803=DUF2968=FE(60.4=100),PF078886=CALCOCO1=FE(53.6=100),PF140731=Cep57_CLD=FE(54.0=100)

C2:

PF111803=DUF2968=PD(14.4=34.8),PF078886=CALCOCO1=FE(32.1=100),PF140731=Cep57_CLD=FE(32.8=100)

Main Inclusion Isoform:

ENSP00000309871

Main Skipping Isoform:

ENSP00000446642

Other Inclusion Isoforms:

ENSP00000404190, ENSP00000404808, ENSP00000447177, ENSP00000447393, ENSP00000448136, ENSP00000448697, ENSP00000448707, ENSP00000448860, ENSP00000448968, ENSP00000449170, ENSP00000449186, ENSP00000449370, ENSP00000449374, ENSP00000449620, ENSP00000449669, ENSP00000449959, ENSP00000449963, ENSP00000450064

Other Skipping Isoforms:

ENSP00000447429, ENSP00000450074

Associated events

HsaEX0051850

Other assemblies

hg19

Conservation

Mouse

(mm10)

chr15:99639614-99639805

HIGH PSI

MmuEX6056439

(Racgap1)

Mouse

(mm9)

chr15:99470045-99470250

HIGH PSI

MmuEX6056439

(Racgap1)

Rat

(rn6)

chr7:141295373-141295578

HIGH PSI

RnoEX0073494

(Racgap1)

Cow

(bosTau6)

chr5:30046421-30046623

Chicken

(galGal4)

chrLGE22C19W28_E50C23:337151-337353

HIGH PSI

GgaEX1047862

(RACGAP1)

Chicken

(galGal3)

chrE22C19W28_E50C23:317116-317318

HIGH PSI

GgaEX6046992

(RACGAP1)

Zebrafish

(danRer10)

chr23:33846840-33847042

HIGH PSI

DreEX6081777

(racgap1)

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

GGATACTATGATGCTGAATGTGCG

R:

CTTTTGTTCCCAGCATTGCT

Band lengths:

220-423

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

Special

HsaEX0051855 @ hg38

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS