HsaEX6096539 @ hg19

Exon Skipping

Gene

ENSG00000180257 | ZNF816

Description

zinc finger protein 816 [Source:HGNC Symbol;Acc:26995]

Coordinates

chr19:53452634-53459357:-

Coord C1 exon

chr19:53459280-53459357

Coord A exon

chr19:53456004-53456130

Coord C2 exon

chr19:53452634-53454837

Length

127 bp

Sequences

Splice sites

3' ss Seq

AAACGTGTTTTTTATTTTAGGGA

3' ss Score

9.83

5' ss Seq

TGGGTGAGG

5' ss Score

6.74

Exon sequences

Seq C1 exon

GATTTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGATGGCTCTTCCTCAG

Seq A exon

GGACGCTTGACTTTCAGGGATGTGGCTATAGAGTTCTCTTTGGAGGAGTGGAAATGCCTGAACCCTGCACAGAGGGCTTTATACAGGGCTGTGATGTTGGAGAACTACAGGAACCTGGAGTTTGTGG

Seq C2 exon

ATAGCTCTTTAAAATCCATGATGGAGTTCTCATCAACCAGGCACAGTATTACAGGAGAAGTGATCCACACAGGGACGTTGCAAAGACATAAAAGTCATCACATTGGAGATTTTTGCTTCCCAGAAATGAAGAAAGATATTCATCACTTTGAGTTTCAGTGGCAAGAAGTTGAAAGAAATGGCCATGAAGCACCCATGACAAAAATCAAAAAGTTGACTGGTAGTACAGACCGAAGTGATCACAGGCATGCTGGAAACAAGCCTATTAAAGATCAGCTTGGATTAAGCTTTCATTCGCATCTGCCTGAACTCCACATGTTTCAGACTAAAGGGAAAATTAGTAACCAATTGGACAAGTCTATCGGTGCTTCCTCAGCTTCAGAATCCCAAAGAATTTCTTGTAGGCTCAAAACTCATATTTCTAATAAGTATGGGAAGAATTTCCTCCATTCTTCATTCACACAAATACAGGAAATATGCATGAGAGAAAAACCTTGCCAA

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000180257-'2-5,'2-3,3-5=AN

Average complexity

A_C1

Mappability confidence:

100%=100=100%

Protein Impact

ORF disruption upon sequence exclusion

No structure available

Features

Disorder rate (Iupred):

C1=0.782 A=0.000 C2=0.105

Domain overlap (PFAM):

C1:

PF029069=Fe_hyd_lg_C=PU(6.7=19.0)

A:

PF0135222=KRAB=WD(100=95.3),PF029069=Fe_hyd_lg_C=FE(70.0=100)

C2:

PF0135222=KRAB=PD(0.1=0.0),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.2),PF097235=Zn-ribbon_8=WD(100=3.2),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF0013017=C1_1=WD(100=11.2),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.2),PF134651=zf-H2C2_2=WD(100=4.2),PF134651=zf-H2C2_2=WD(100=4.2)

Main Inclusion Isoform:

ENSP00000350295

Main Skipping Isoform:

NA

Other Inclusion Isoforms:

ENSP00000333199, ENSP00000375656, ENSP00000403266, ENSP00000408965, ENSP00000438519, ENSP00000469688, ENSP00000470838, ENSP00000471215, ENSP00000472475

Other Skipping Isoforms:

NA

Associated events

Other assemblies

hg38

Conservation

Mouse

(mm10)

chr4:146121884-146122010

Mouse

(mm9)

chr4:146089285-146089411

Rat

(rn6)

No conservation detected

Cow

(bosTau6)

chr18:59608204-59608330

Chicken

(galGal4)

chrUn_AADN03012835:199-325

Chicken

(galGal3)

chrUn_random:28966345-28966471

Zebrafish

(danRer10)

No conservation detected

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

GAGGAAGCCACCAAGAAGAGC

R:

ATGGGTGCTTCATGGCCATTT

Band lengths:

250-377

Functional annotations

(Submit an annotation)

There are 0 annotated functions for this event

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

HsaEX6096539 @ hg19

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS