HsaEX6092247 @ hg19

Exon Skipping

Gene

ENSG00000088247 | KHSRP

Description

KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:6316]

Coordinates

chr19:6418713-6420155:-

Coord C1 exon

chr19:6420084-6420155

Coord A exon

chr19:6419214-6419271

Coord C2 exon

chr19:6418713-6418887

Length

58 bp

Sequences

Splice sites

3' ss Seq

ACTCTATCTCCTCTTTTCAGACA

3' ss Score

9.9

5' ss Seq

CCAGTAAGT

5' ss Score

9.09

Exon sequences

Seq C1 exon

TCATTGGCAGAGGAGGTGAACAAATTAACAAAATCCAACAGGATTCAGGCTGCAAAGTACAGATTTCTCCAG

Seq A exon

ACAGCGGTGGCCTACCCGAGCGCAGTGTGTCCTTGACAGGAGCCCCAGAATCTGTCCA

Seq C2 exon

GAAAGCCAAGATGATGCTGGATGACATTGTGTCTCGGGGTCGTGGGGGCCCCCCAGGACAGTTCCACGACAACGCCAACGGGGGCCAGAACGGCACCGTGCAGGAGATCATGATCCCCGCGGGCAAGGCCGGCCTGGTCATTGGCAAGGGCGGGGAGACCATTAAGCAGCTGCAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000088247-'6-7,'6-6,7-7=AN

Average complexity

A_S

Mappability confidence:

100%=100=100%

Protein Impact

ORF disruption upon sequence exclusion

No structure available

Features

Disorder rate (Iupred):

C1=0.800 A=0.950 C2=0.593

Domain overlap (PFAM):

C1:

PF0001324=KH_1=FE(38.1=100)

A:

PF0001324=KH_1=FE(30.2=100)

C2:

PF0001324=KH_1=PD(9.5=10.2),PF0001324=KH_1=PU(38.5=42.4)

Main Inclusion Isoform:

ENSP00000381216

Main Skipping Isoform:

NA

Other Inclusion Isoforms:

ENSP00000469431, ENSP00000469830, ENSP00000471262

Other Skipping Isoforms:

NA

Associated events

HsaEX0033409

Other assemblies

hg38

Conservation

Mouse

(mm10)

chr17:57025880-57025937

MmuEX1015750

(Khsrp)

Mouse

(mm9)

chr17:57165303-57165360

Rat

(rn6)

No conservation detected

Cow

(bosTau6)

chr7:19265504-19265561

HIGH PSI

BtaEX6038729

(KHSRP)

Chicken

(galGal4)

chr8:17795561-17795618

HIGH PSI

GgaEX6044514

(FUBP1)

Chicken

(galGal3)

No conservation detected

Zebrafish

(danRer10)

chr1:54289741-54289798

HIGH PSI

DreEX6033894

(khsrp)

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

CATTGGCAGAGGAGGTGAACA

R:

GTTGTCGTGGAACTGTCCTGG

Band lengths:

144-202

Functional annotations

(Submit an annotation)

There are 1 annotated functions for this event

PMID: 19770516

This event

Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, mutation analysis. ELM ID: ELMI002009; ELM sequence: VQISPD; Overlap: PARTIAL_LEFT

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS

Autistic and control brains

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

HsaEX6092247 @ hg19

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS