Special

HsaEX0072573 @ hg19

Exon Skipping

Gene
Description
zinc finger E-box binding homeobox 2 [Source:HGNC Symbol;Acc:14881]
Coordinates
chr2:145153979-145158874:-
Coord C1 exon
chr2:145158766-145158874
Coord A exon
chr2:145155868-145157837
Coord C2 exon
chr2:145153979-145154159
Length
1970 bp
Sequences
Splice sites
3' ss Seq
AATTTTAATTATCATTTTAGGTG
3' ss Score
8.37
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
CACCAAATGCTAACCCAAGGAGCAGGTAATCGCAAGTTCAAATGCACAGAGTGTGGCAAGGCCTTCAAATATAAACACCATCTGAAAGAACACCTGCGAATTCACAGTG
Seq A exon
GTGAAAAACCTTACGAGTGCCCAAACTGCAAGAAACGTTTCTCCCATTCTGGTTCCTACAGTTCGCACATCAGCAGCAAGAAATGTATTGGTTTAATCTCTGTAAATGGCCGAATGAGAAACAATATCAAGACGGGTTCTTCCCCTAATTCTGTTTCTTCTTCTCCTACTAATTCAGCCATTACCCAGTTAAGAAACAAGTTGGAGAATGGAAAACCACTTAGTATGTCTGAACAGACAGGCTTACTTAAAATTAAAACAGAACCACTAGACTTCAATGACTATAAAGTTCTTATGGCTACACACGGGTTTAGTGGCACTAGTCCCTTTATGAATGGTGGGCTTGGAGCCACCAGCCCTTTAGGAGTTCATCCATCTGCTCAGAGTCCAATGCAGCACTTAGGTGTAGGGATGGAAGCCCCTTTACTTGGGTTTCCCACCATGAATAGTAATTTAAGTGAGGTACAAAAGGTTCTACAGATTGTGGACAATACTGTTTCCAGGCAAAAAATGGACTGCAAGGCTGAAGAAATTTCAAAGTTGAAAGGTTATCACATGAAGGATCCATGCTCTCAACCTGAGGAACAAGGAGTTACTTCTCCTAATATTCCGCCTGTCGGTCTTCCGGTAGTGAGTCATAATGGTGCCACTAAAAGTATTATTGACTATACGTTGGAAAAAGTCAATGAAGCCAAAGCTTGCCTCCAGAGCTTGACTACTGACTCAAGGAGACAGATCAGTAATATAAAGAAAGAGAAGCTACGTACTTTAATAGATTTGGTCACTGATGACAAAATGATTGAGAACCACAACATATCCACTCCATTTTCATGCCAGTTCTGTAAAGAAAGTTTTCCTGGCCCCATCCCTTTGCATCAGCATGAACGTTACCTTTGTAAGATGAATGAAGAGATCAAGGCGGTCCTGCAGCCTCATGAAAACATAGTCCCCAACAAAGCCGGAGTTTTTGTTGATAATAAAGCCCTCCTCTTGTCATCTGTACTTTCTGAGAAAGGAATGACAAGCCCCATCAACCCATACAAGGACCACATGTCTGTACTCAAAGCATACTATGCTATGAACATGGAGCCCAACTCCGATGAACTGCTGAAAATTTCCATTGCTGTGGGCCTTCCTCAGGAATTTGTGAAGGAATGGTTTGAACAACGAAAAGTCTACCAGTACTCAAATTCCAGGTCCCCATCCCTGGAAAGAAGCTCCAAGCCGTTAGCTCCCAACAGTAACCCTCCCACAAAAGACTCTTTATTACCCAGGTCTCCTGTAAAACCTATGGACTCCATAACATCACCATCTATAGCAGAACTCCACAACAGTGTTACGAATTGTGATCCTCCTCTCAGGCTAACAAAACCTTCCCATTTTACCAATATTAAACCAGTTGAAAAATTGGACCACTCCAGGAGTAATACTCCTTCTCCCTTAAATCTTTCCTCCACATCTTCTAAAAACTCCCACAGTAGTTCATACACTCCAAACAGCTTCTCTTCTGAGGAGCTCCAGGCTGAGCCTTTAGACTTGTCATTACCAAAACAAATGAAAGAACCCAAAAGTATTATAGCCACAAAGAACAAAACAAAAGCTAGTAGCATCAGTTTAGATCATAACAGTGTTTCTTCCTCATCTGAAAACTCAGATGAGCCTCTGAACTTGACTTTTATCAAGAAGGAATTTTCAAATTCAAATAATCTGGACAACAAAAGCACTAACCCAGTGTTCAGCATGAACCCATTTAGTGCCAAACCTTTATACACAGCTCTTCCACCTCAAAGCGCATTTCCCCCTGCTACTTTCATGCCACCAGTCCAGACCAGTATTCCTGGGCTACGACCATACCCAGGACTGGATCAGATGAGCTTCCTACCACATATGGCCTACACCTACCCAACTGGAGCAGCTACTTTTGCTGATATGCAGCAAAGGAGAAAGTACCAGCGGAAACAAGGATTTCAG
Seq C2 exon
GGAGAATTGCTTGATGGAGCACAAGACTACATGTCAGGCCTAGATGATATGACAGACTCCGACTCCTGTCTGTCTCGCAAAAAGATCAAGAAGACAGAGAGTGGCATGTATGCATGTGACTTATGTGACAAGACATTCCAGAAAAGCAGTTCCCTTCTGCGACATAAATACGAACACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169554_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.205 A=0.454 C2=0.115
Domain overlap (PFAM):

C1:
PF056057=zf-Di19=PD(0.1=0.0),PF134651=zf-H2C2_2=PU(38.5=27.0)
A:
PF134651=zf-H2C2_2=PD(57.7=2.3),PF0004624=Homeobox=WD(100=7.8)
C2:
PF134651=zf-H2C2_2=PU(38.5=16.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAATGCTAACCCAAGGAGCA
R:
TGTGTGTTCGTATTTATGTCGCA
Band lengths:
287-2257
Functional annotations
There are 3 annotated functions for this event
PMID: 12714599
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI000260; ELM sequence: PLNLS; Overlap: FULL
PMID: 12714599
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI000261; ELM sequence: PLDLS; Overlap: FULL
PMID: 12714599
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI000262; ELM sequence: PLNLT; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development