HsaEX0036951 @ hg19

Exon Skipping

Gene

ENSG00000090006 | LTBP4

Description

latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:6717]

Coordinates

chr19:41120221-41125398:+

Coord C1 exon

chr19:41120221-41120352

Coord A exon

chr19:41122795-41122926

Coord C2 exon

chr19:41125252-41125398

Length

132 bp

Sequences

Splice sites

3' ss Seq

ATCTCCTCCACACTCTGCAGATG

3' ss Score

9.01

5' ss Seq

AGGGTGGGT

5' ss Score

5.37

Exon sequences

Seq C1 exon

ACGTGGACGAATGTCGCGAGCGAGGCCCAGCCCTGTGCGGGTCGCAGCGCTGTGAGAACTCTCCCGGCTCCTACCGCTGTGTCCGGGACTGCGATCCTGGGTACCACGCGGGCCCCGAGGGCACCTGTGACG

Seq A exon

ATGTGGATGAGTGCCAAGAATATGGTCCCGAGATTTGTGGAGCCCAGCGTTGTGAGAACACCCCTGGCTCCTACCGCTGCACACCAGCCTGTGACCCTGGCTATCAGCCCACGCCAGGGGGCGGATGCCAGG

Seq C2 exon

ATGTGAACGAGTGTGAAACACTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTCTGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACTTCTGCTG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000090006_MULTIEX1-16/22=14-18

Average complexity

C2*

Mappability confidence:

100%=100=100%

Protein Impact

Alternative protein isoforms (Ref)

No structure available

Features

Disorder rate (Iupred):

C1=0.000 A=0.000 C2=0.158

Domain overlap (PFAM):

C1:

PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)

A:

PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)

C2:

PF0764510=EGF_CA=WD(100=84.0),PF0764510=EGF_CA=PU(0.1=0.0)

Main Inclusion Isoform:

ENSP00000472995

Main Skipping Isoform:

ENSP00000441054

Other Inclusion Isoforms:

ENSP00000204005, ENSP00000311905, ENSP00000380031, ENSP00000469406

Other Skipping Isoforms:

ENSP00000243562, ENSP00000469785, ENSP00000470824

Associated events

HsaEX0036952

Other assemblies

hg38

Conservation

Mouse

(mm10)

chr7:27319625-27319756

HIGH PSI

MmuEX6009245

(Ltbp4)

Mouse

(mm9)

chr7:28104644-28104775

HIGH PSI

MmuEX6009245

(Ltbp4)

Rat

(rn6)

chr1:84132211-84132342

HIGH PSI

RnoEX0051404

(Ltbp4)

Cow

(bosTau6)

chr18:50191725-50191856

HIGH PSI

BtaEX0020886

(LTBP4)

Chicken

(galGal4)

chr5:37218109-37218240

HIGH PSI

GgaEX1034366

(LTBP2)

Chicken

(galGal3)

chr5:40346186-40346317

HIGH PSI

GgaEX1034366

(LTBP2)

Zebrafish

(danRer10)

chr18:49025166-49025289

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

CGTGGACGAATGTCGCGAG

R:

CATGGGGTCAAACTCTTCCGG

Band lengths:

244-376

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

HsaEX0036951 @ hg19

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS