HsaEX0021280 @ hg38

Exon Skipping

Gene

ENSG00000077380 | DYNC1I2

Description

dynein cytoplasmic 1 intermediate chain 2 [Source:HGNC Symbol;Acc:HGNC:2964]

Coordinates

chr2:171692777-171707377:+

Coord C1 exon

chr2:171692777-171692894

Coord A exon

chr2:171706547-171706564

Coord C2 exon

chr2:171707287-171707377

Length

18 bp

Sequences

Splice sites

3' ss Seq

TCTTTGTCTGTACACTTCAGTTT

3' ss Score

5.94

5' ss Seq

GGGGTAAGG

5' ss Score

8.05

Exon sequences

Seq C1 exon

ACAGACCAGAAGAAGGAAGCTGTTGCTCCTGTGCAAGAAGAATCAGATCTTGAAAAAAAAAGGAGAGAAGCTGAAGCATTGCTTCAAAGCATGGGGCTAACTCCAGAATCCCCCATTG

Seq A exon

TTTTTTCTGAATACTGGG

Seq C2 exon

TCCCTCCTCCTATGTCTCCATCCTCCAAATCTGTGAGCACTCCAAGTGAAGCTGGAAGCCAAGACTCTGGAGATGGCGCCGTGGGATCTAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000077380_MULTIEX1-1/3=C1-2

Average complexity

C1

Mappability confidence:

75%=100=100%

Protein Impact

Alternative protein isoforms (Ref)

No structure available

Features

Disorder rate (Iupred):

C1=0.976 A=1.000 C2=0.971

Domain overlap (PFAM):

C1:

PF142651=DUF4355=FE(44.3=100)

A:

NO

C2:

PF115403=Dynein_IC2=PU(0.1=0.0)

Main Inclusion Isoform:

ENSP00000380308

Main Skipping Isoform:

ENSP00000386591

Other Inclusion Isoforms:

ENSP00000386415, ENSP00000386886, ENSP00000401005

Other Skipping Isoforms:

ENSP00000339430, ENSP00000386397, ENSP00000386522, ENSP00000388699, ENSP00000392741, ENSP00000394492, ENSP00000397654, ENSP00000398765, ENSP00000403089, ENSP00000405454, ENSP00000406104, ENSP00000409951, ENSP00000410807, ENSP00000423339

Associated events

Other assemblies

hg19

Conservation

Mouse

(mm10)

chr2:71227827-71227844

Mouse

(mm9)

chr2:71065884-71065901

ALTERNATIVE

MmuEX0015955

(Dync1i2)

Rat

(rn6)

chr3:57831885-57831902

ALTERNATIVE

RnoEX0030336

(Dync1i2)

Cow

(bosTau6)

chr2:24847550-24847567

ALTERNATIVE

BtaEX0012221

(DYNC1I2)

Chicken

(galGal4)

No conservation detected

Chicken

(galGal3)

No conservation detected

Zebrafish

(danRer10)

chr9:3176697-3176710

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

TGGGGCTAACTCCAGAATCCC

R:

GCCATCTCCAGAGTCTTGGCT

Band lengths:

104-122

Functional annotations

(Submit an annotation)

There are 0 annotated functions for this event

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS

Genotype-Tissue Expression Project (GTEx)
Autistic and control brains
Pre-implantation embryo development

Special

HsaEX0021280 @ hg38

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS