HsaEX6018355 @ hg19

Exon Skipping

Gene

ENSG00000115414 | FN1

Description

fibronectin 1 [Source:HGNC Symbol;Acc:3778]

Coordinates

chr2:216285396-216288249:-

Coord C1 exon

chr2:216288073-216288249

Coord A exon

chr2:216286814-216286966

Coord C2 exon

chr2:216285396-216285524

Length

153 bp

Sequences

Splice sites

3' ss Seq

TCTTATCCATTTCCAAACAGCCC

3' ss Score

8.37

5' ss Seq

GAGGTATGC

5' ss Score

9.12

Exon sequences

Seq C1 exon

TTTTGGTTCAGACTCGAGGAGGAAATTCCAATGGTGCCTTGTGCCACTTCCCCTTCCTATACAACAACCACAATTACACTGATTGCACTTCTGAGGGCAGAAGAGACAACATGAAGTGGTGTGGGACCACACAGAACTATGATGCCGACCAGAAGTTTGGGTTCTGCCCCATGGCTG

Seq A exon

CCCACGAGGAAATCTGCACAACCAATGAAGGGGTCATGTACCGCATTGGAGATCAGTGGGATAAGCAGCATGACATGGGTCACATGATGAGGTGCACGTGTGTTGGGAATGGTCGTGGGGAATGGACATGCATTGCCTACTCGCAGCTTCGAG

Seq C2 exon

ATCAGTGCATTGTTGATGACATCACTTACAATGTGAACGACACATTCCACAAGCGTCATGAAGAGGGGCACATGCTGAACTGTACATGCTTCGGTCAGGGTCGGGGCAGGTGGAAGTGTGATCCCGTCG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000115414-'16-16,'16-14,19-16=AN

Average complexity

A_S

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=0.000

Domain overlap (PFAM):

C1:

PF0004014=fn2=WD(100=70.0)

A:

PF0003913=fn1=WD(100=75.0)

C2:

PF0003913=fn1=WD(100=86.4)

Main Inclusion Isoform:

ENSP00000346839

Main Skipping Isoform:

NA

Other Inclusion Isoforms:

ENSP00000265312, ENSP00000273049, ENSP00000323534, ENSP00000338200, ENSP00000348285, ENSP00000349509, ENSP00000350534, ENSP00000352696, ENSP00000394423, ENSP00000398907, ENSP00000399538, ENSP00000410422, ENSP00000415018

Other Skipping Isoforms:

NA

Associated events

Other assemblies

hg38

Conservation

Mouse

(mm10)

chr1:71640292-71640444

HIGH PSI

MmuEX6025149

(Fn1)

Mouse

(mm9)

chr1:71686866-71687018

HIGH PSI

MmuEX6025149

(Fn1)

Rat

(rn6)

chr9:78955972-78956124

HIGH PSI

RnoEX6040250

(Fn1)

Cow

(bosTau6)

chr2:103935924-103936076

HIGH PSI

BtaEX6011330

(FN1)

Chicken

(galGal4)

chr7:4372024-4372176

HIGH PSI

GgaEX1066055

(fn1)

Chicken

(galGal3)

chr7:4400429-4400581

HIGH PSI

GgaEX1066055

(FN1)

Zebrafish

(danRer10)

chr1:4835838-4835990

HIGH PSI

DreEX6029949

(fn1b)

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

AATGGTGCCTTGTGCCACTTC

R:

CCCTGACCGAAGCATGTACAG

Band lengths:

248-401

Functional annotations

(Submit an annotation)

There are 5 annotated functions for this event

PMID: 1532572

This event

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002208; ELM sequence: NGR; Overlap: FULL

PMID: 1694173

This event

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002208; ELM sequence: NGR; Overlap: FULL

PMID: 18480047

This event

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance. ELM ID: ELMI002208; ELM sequence: NGR; Overlap: FULL

PMID: 17591922

MmuEX6025149

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance, sequence based prediction. ELM ID: ELMI002211; ELM sequence: NGR; Overlap: FULL

PMID: 18480047

MmuEX6025149

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance. ELM ID: ELMI002211; ELM sequence: NGR; Overlap: FULL

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

HsaEX6018355 @ hg19

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS