HsaEX6055242 @ hg19

Exon Skipping

Gene

ENSG00000168334 | XIRP1

Description

xin actin-binding repeat containing 1 [Source:HGNC Symbol;Acc:14301]

Coordinates

chr3:39224701-39234087:-

Coord C1 exon

chr3:39233937-39234087

Coord A exon

chr3:39227580-39231016

Coord C2 exon

chr3:39224701-39227152

Length

3437 bp

Sequences

Splice sites

3' ss Seq

TTTACTACCATTTCTCCCAGCAT

3' ss Score

5.07

5' ss Seq

AAGGTCAGT

5' ss Score

8.68

Exon sequences

Seq C1 exon

GACAGAGACCTGGAGCCAGGGCAGCAAGAAGGTGTCTGTTGGAGCCAGCAGAACAGAACCAATTTGAACAAGAACCTCCAGAGGAACGACGAACCCTGAGACCACAGCTGCTACAGACCACAAACACCCCATCAGCCAAGAGAGACCCTTG

Seq A exon

CATCCAGCCTCTACCCTGCTGAACATCTAGATCTAAGGCTCCCAATCCCATCCTCATCTCTGCCCCTTCTTCTCAGAAGGATGGCCGACACCCAGACACAGGTGGCCCCCACACCAACCATGAGGATGGCAACTGCAGAGGACCTGCCCCTCCCTCCACCCCCAGCCCTGGAGGACCTGCCACTGCCGCCACCCAAGGAATCCTTCTCCAAGTTCCATCAGCAGCGGCAAGCTAGTGAGCTCCGCCGCCTCTACAGGCACATCCACCCTGAGCTCCGCAAGAATCTGGCTGAGGCTGTGGCCGAGGATCTGGCTGAGGTCCTGGGCTCTGAGGAACCCACCGAGGGTGACGTTCAGTGCATGCGCTGGATCTTTGAGAACTGGAGACTGGATGCCATTGGAGAACACGAGAGGCCAGCTGCCAAGGAGCCCGTGCTGTGTGGTGACGTCCAGGCCACCTCCCGCAAGTTTGAGGAAGGCTCCTTTGCCAACAGCACAGACCAGGAGCCAACCAGGCCCCAGCCAGGTGGAGGAGACGTTCGTGCAGCCCGCTGGCTATTTGAGACAAAGCCACTGGACGAGCTGACAGGGCAAGCCAAGGAACTGGAGGCCACTGTGAGGGAGCCTGCAGCCAGCGGAGATGTGCAGGGTACCAGGATGCTCTTTGAGACGCGGCCGCTGGACCGCCTGGGCTCCCGCCCCTCCCTGCAGGAGCAGAGCCCCTTGGAACTGCGCTCAGAGATCCAGGAGCTGAAGGGTGATGTGAAAAAGACAGTGAAGCTCTTCCAAACGGAGCCCCTGTGTGCCATCCAGGATGCAGAGGGCGCCATCCATGAGGTCAAGGCCGCATGCCGGGAGGAGATCCAAAGCAACGCGGTGAGGTCTGCCCGCTGGCTCTTTGAGACCCGGCCTCTGGACGCCATCAACCAGGACCCCAGCCAGGTGCGGGTGATCCGGGGGATTTCCCTGGAGGAGGGGGCCCGGCCCGACGTCAGTGCAACTCGCTGGATCTTTGAGACACAGCCCCTGGATGCCATCCGGGAGATCTTGGTAGATGAGAAGGACTTCCAGCCATCCCCAGACCTTATCCCACCTGGTCCAGATGTTCAGCAGCAGCAGCATCTGTTTGAGACCCGAGCGCTGGACACTCTGAAGGGGGACGAAGAGGCTGGAGCAGAGGCCCCACCCAAGGAGGAAGTGGTCCCTGGTGATGTCCGCTCCACCCTGTGGCTATTTGAAACAAAGCCCCTGGATGCTTTCAGAGACAAGGTCCAAGTGGGTCACCTACAGCGAGTGGATCCCCAGGACGGTGAGGGGCATCTATCCAGTGACAGCTCCTCAGCACTGCCCTTCTCTCAGAGTGCCCCCCAGAGGGATGAGCTAAAGGGGGATGTGAAGACTTTTAAGAACCTTTTTGAGACCCTTCCCTTGGACAGCATTGGACAGGGTGAGGTTCTGGCCCATGGGAGTCCAAGCAGAGAAGAAGGAACTGATTCTGCTGGGCAGGCCCAGGGCATAGGGTCCCCAGTGTATGCCATGCAGGACAGCAAGGGCCGCCTCCATGCCCTGACCTCTGTTAGCAGAGAGCAGATAGTCGGAGGTGATGTGCAGGGCTACAGGTGGATGTTTGAGACACAGCCCCTAGACCAGCTCGGCCGAAGCCCCAGTACCATCGACGTGGTGCGGGGCATCACCCGGCAGGAAGTGGTGGCTGGGGACGTTGGCACAGCTCGGTGGCTTTTTGAGACCCAGCCCCTGGAGATGATCCACCAACGGGAGCAGCAGGAACGACAGAAAGAAGAAGGGAAGAGTCAGGGAGACCCCCAGCCTGAGGCACCCCCAAAGGGCGATGTGCAGACCATCCGGTGGTTGTTCGAGACTTGCCCAATGAGTGAGTTGGCCGAAAAGCAGGGGTCAGAGGTCACAGATCCCACAGCCAAGGCTGAGGCACAGTCCTGCACCTGGATGTTCAAGCCCCAACCTGTGGACAGGCCAGTGGGCTCCAGGGAGCAGCACCTGCAGGTTAGCCAGGTCCCGGCTGGGGAAAGACAGACAGACAGACACGTCTTTGAGACCGAGCCTCTTCAGGCCTCAGGCCGTCCCTGTGGAAGACGGCCTGTGAGATACTGCAGCCGCGTGGAGATCCCTTCAGGGCAGGTGTCTCGTCAGAAAGAGGTTTTTCAGGCCCTGGAGGCAGGCAAGAAGGAAGAACAGGAGCCCCGGGTAATCGCTGGGTCCATCCCCGCGGGTTCTGTCCACAAGTTCACTTGGCTTTTTGAGAATTGTCCCATGGGCTCCCTGGCAGCTGAGAGCATCCAAGGGGGCAACCTCCTGGAAGAGCAGCCCATGAGCCCCTCAGGCAACAGGATGCAAGAGAGCCAGGAGACTGCAGCTGAGGGGACCCTGCGGACTCTGCATGCCACACCTGGCATCCTGCACCATGGAGGCATCCTCATGGAGGCCCGAGGGCCAGGGGAGCTCTGTCTTGCCAAGTATGTGCTCTCGGGCACAGGGCAGGGGCACCCTTATATACGAAAGGAGGAGCTGGTGTCAGGTGAACTTCCCAGGATCATCTGCCAAGTCCTGCGCCGGCCAGATGTGGACCAGCAGGGGCTGCTGGTGCAGGAAGACCCAACTGGCCAGCTCCAACTCAAGCCGCTGAGGCTGCCAACTCCAGGCAGCAGTGGGAATATTGAAGACATGGACCCTGAGCTCCAGCAGCTGCTGGCTTGCGGTCTTGGGACCTCCGTGGCAAGGACTGGGCTGGTGATGCAGGAGACAGAGCAGGGCCTGGTCGCACTGACTGCCTACTCTCTGCAGCCCCGGCTAACTAGCAAGGCCTCTGAGAGGAGCAGCGTGCAGCTGTTGGCCAGCTGCATAGATAAAGGAGACCTGAGTGGCCTGCACAGTCTGCGGTGGGAGCCCCCGGCTGACCCGAGTCCAGTGCCAGCCAGCGAGGGGGCCCAGAGCCTGCACCCAACTGAGAGCATCATCCATGTTCCCCCACTGGACCCCAGCATGGGGATGGGGCATCTGAGAGCCTCAGGGGCCACCCCTTGCCCTCCTCAGGCCATTGGAAAGGCAGTCCCTCTGGCTGGGGAAGCTGCAGCACCAGCCCAATTGCAAAACACAGAAAAGCAGGAAGACAGTCACTCTGGACAGAAAGGGATGGCAGTCTTGGGAAAGTCAGAAGGAGCCACGACTACCCCTCCGGGGCCTGGGGCCCCAGACCTCCTGGCCGCCATGCAGAGTCTGCGGATGGCAACAGCTGAAGCCCAGAGCCTGCACCAGCAAGTTCTGAACAAGCACAAGCAGGGCCCCACCCCAACAGCCACTTCCAACCCCATCCAGGACGGTCTTCGGAAAGCTGGGGCTACCCAAAGCAACATAAGGCCTGGGGGTGGAAGTGATCCCCGGATCCCAGCAGCCCCCAGAAAG

Seq C2 exon

CTGCTGTGACAGGACCTGACTTTCCAGCTGGAGCCCACCGTGCTGAGGACTCCATCCAGCAAGCCTCTGAGCCCCTGAAGGACCCCCTTCTTCACTCCCACAGCAGCCCTGCTGGCCAGAGAACCCCTGGAGGGTCACAGACAAAGACCCCAAAACTGGACCCCACCATGCCCCCAAAGAAGAAGCCGCAGCTGCCCCCTAAACCTGCACACCTAACCCAGAGCCACCCTCCTCAGAGGCTGCCCAAGCCCTTGCCTCTATCTCCCAGCTTTTCCTCGGAGGTGGGGCAAAGAGAACACCAACGAGGTGAGAGAGATACAGCCATCCCTCAGCCAGCCAAGGTTCCCACTACTGTAGACCAGGGCCACATACCTCTGGCCAGATGTCCCAGTGGACATAGCCAGCCCAGCTTACAACATGGCCTCAGCACCACGGCCCCCAGGCCCACCAAGAATCAGGCTACAGGCAGCAATGCCCAGAGCTCTGAGCCCCCCAAGCTC

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000168334-'0-1,'0-0,1-1=AN

Average complexity

A_S

Mappability confidence:

100%=100=100%

Protein Impact

ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))

No structure available

Features

Disorder rate (Iupred):

C1=NA A=0.640 C2=1.000

Domain overlap (PFAM):

C1:

NA

A:

PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.3),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4),PF080437=Xin=WD(100=1.4)

C2:

NO

Main Inclusion Isoform:

ENSP00000379550

Main Skipping Isoform:

NA

Other Inclusion Isoforms:

ENSP00000343140

Other Skipping Isoforms:

NA

Associated events

HsaINT0183579

Other assemblies

hg38

Conservation

Mouse

(mm10)

chr9:120016426-120019819

HIGH PSI

MmuEX6069879

(Xirp1)

Mouse

(mm9)

chr9:119925544-119928937

HIGH PSI

MmuEX6069879

(Xirp1)

Rat

(rn6)

chr8:128704895-128708273

HIGH PSI

RnoEX0099944

(Xirp1)

Cow

(bosTau6)

chr22:12552463-12555868

Chicken

(galGal4)

chr2:4948021-4952730

ALTERNATIVE

GgaEX1064422

(XIRP1)

Chicken

(galGal3)

chr2:4878837-4883619

Zebrafish

(danRer10)

chr6:9945613-9946068

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

No suggested primer sequences

R:

No suggested primer sequences

Band lengths:

Functional annotations

(Submit an annotation)

There are 1 annotated functions for this event

PMID: 16631741

This event

Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: colocalization, far western blotting, mutation analysis, peptide array, two hybrid. ELM ID: ELMI002581; ELM sequence: LPLPP; 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

HsaEX6055242 @ hg19

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS