HsaEX6018351 @ hg38

Exon Skipping

Gene

ENSG00000115414 | FN1

Description

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

Coordinates

chr2:215425094-215430852:-

Coord C1 exon

chr2:215430715-215430852

Coord A exon

chr2:215428180-215428338

Coord C2 exon

chr2:215425094-215425285

Length

159 bp

Sequences

Splice sites

3' ss Seq

GTGCTTCCTTTGTGACACAGATA

3' ss Score

7.03

5' ss Seq

GCGGTGAGG

5' ss Score

7.93

Exon sequences

Seq C1 exon

CTGAGAAGTGTTTTGATCATGCTGCTGGGACTTCCTATGTGGTCGGAGAAACGTGGGAGAAGCCCTACCAAGGCTGGATGATGGTAGATTGTACTTGCCTGGGAGAAGGCAGCGGACGCATCACTTGCACTTCTAGAA

Seq A exon

ATAGATGCAACGATCAGGACACAAGGACATCCTATAGAATTGGAGACACCTGGAGCAAGAAGGATAATCGAGGAAACCTGCTCCAGTGCATCTGCACAGGCAACGGCCGAGGAGAGTGGAAGTGTGAGAGGCACACCTCTGTGCAGACCACATCGAGCG

Seq C2 exon

GATCTGGCCCCTTCACCGATGTTCGTGCAGCTGTTTACCAACCGCAGCCTCACCCCCAGCCTCCTCCCTATGGCCACTGTGTCACAGACAGTGGTGTGGTCTACTCTGTGGGGATGCAGTGGCTGAAGACACAAGGAAATAAGCAAATGCTTTGCACGTGCCTGGGCAACGGAGTCAGCTGCCAAGAGACAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000115414-'13-19,'13-15,17-19

Average complexity

S

Mappability confidence:

100%=100=100%

Protein Impact

Alternative protein isoforms (Ref)

No structure available

Features

Disorder rate (Iupred):

C1=0.000 A=0.111 C2=0.246

Domain overlap (PFAM):

C1:

PF0003913=fn1=WD(100=85.1)

A:

PF0003913=fn1=WD(100=74.1)

C2:

PF0003913=fn1=WD(100=53.8)

Main Inclusion Isoform:

ENSP00000346839

Main Skipping Isoform:

NA

Other Inclusion Isoforms:

ENSP00000323534, ENSP00000338200, ENSP00000348285, ENSP00000350534, ENSP00000352696, ENSP00000394423, ENSP00000398907, ENSP00000399538, ENSP00000410422, ENSP00000415018

Other Skipping Isoforms:

NA

Associated events

Other assemblies

hg19

Conservation

Mouse

(mm10)

chr1:71645547-71645702

HIGH PSI

MmuEX6025145

(Fn1)

Mouse

(mm9)

chr1:71692121-71692276

HIGH PSI

MmuEX6025145

(Fn1)

Rat

(rn6)

chr9:78960981-78961136

HIGH PSI

RnoEX6040248

(Fn1)

Cow

(bosTau6)

chr2:103941937-103942095

HIGH PSI

BtaEX6011326

(FN1)

Chicken

(galGal4)

chr7:4376687-4376845

HIGH PSI

GgaEX1066072

(fn1)

Chicken

(galGal3)

chr7:4405092-4405250

HIGH PSI

GgaEX1066072

(FN1)

Zebrafish

(danRer10)

chr1:4839593-4839754

HIGH PSI

DreEX0033159

(fn1b)

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

GGGACTTCCTATGTGGTCGGA

R:

CTTGTGTCTTCAGCCACTGCA

Band lengths:

247-406

Functional annotations

(Submit an annotation)

There are 6 annotated functions for this event

PMID: 1532572

HsaEX6018351

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002206; ELM sequence: NGR; Overlap: FULL

PMID: 1694173

HsaEX6018351

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002206; ELM sequence: NGR; Overlap: FULL

PMID: 17015452

HsaEX6018351

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, nuclear magnetic resonance, peptide binding to perpetrator, polyclonal antibody, western blot. ELM ID: ELMI002206; ELM sequence: NGR; Overlap: FULL

PMID: 18480047

HsaEX6018351

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance. ELM ID: ELMI002206; ELM sequence: NGR; Overlap: FULL

PMID: 17591922

MmuEX6025145

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance, sequence based prediction. ELM ID: ELMI002210; ELM sequence: NGR; Overlap: FULL

PMID: 18480047

MmuEX6025145

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance. ELM ID: ELMI002210; ELM sequence: NGR; Overlap: FULL

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS

Autistic and control brains

Special

HsaEX6018351 @ hg38

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS