Special

HsaEX0017193 @ hg19

Exon Skipping

Gene
ENSG00000005339 | CREBBP
Description
CREB binding protein [Source:HGNC Symbol;Acc:2348]
Coordinates
chr16:3860604-3930727:-
Coord C1 exon
chr16:3929833-3930727
Coord A exon
chr16:3900298-3901010
Coord C2 exon
chr16:3860604-3860780
Length
713 bp
Sequences
Splice sites
3' ss Seq
CATTTCTGTTTAATTTCTAGATT
3' ss Score
9.22
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GGGGGGGAGCGAGGCGGCGGCGGCGGCGGCACCATGTTCTCGGGGACTGCCTGAGCCGCCCGGCCGGGCGCCGTCGCTGCCAGCCGGGCCCGGGGGGGCGGCCGGGCCGCCGGGGCGCCCCCACCGCGGAGTGTCGCGCTCGGGAGGCGGGCAGGGGATGAGGGGGCCGCGGCCGGCGGCGGCGGCGGCGGCCGGGGGCGGGCGGTGAGCGCTGCGGGGCGCTGTTGCTGTGGCTGAGATTTGGCCGCCGCCTCCCCCACCCGGCCTGCGCCCTCCCTCTCCCTCGGCGCCCGCCCGCCCGCTCGCGGCCCGCGCTCGCTCCTCTCCCTCGCAGCCGGCAGGGCCCCCGACCCCCGTCCGGGCCCTCGCCGGCCCGGCCGCCCGTGCCCGGGGCTGTTTTCGCGAGCAGGTGAAAATGGCTGAGAACTTGCTGGACGGACCGCCCAACCCCAAAAGAGCCAAACTCAGCTCGCCCGGTTTCTCGGCGAATGACAGCACAG
Seq A exon
ATTTTGGATCATTGTTTGACTTGGAAAATGATCTTCCTGATGAGCTGATACCCAATGGAGGAGAATTAGGCCTTTTAAACAGTGGGAACCTTGTTCCAGATGCTGCTTCCAAACATAAACAACTGTCGGAGCTTCTACGAGGAGGCAGCGGCTCTAGTATCAACCCAGGAATAGGAAATGTGAGCGCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATGGCCAGCCTCAGTGCCATGGGCAAGAGCCCTCTGAGCCAGGGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGGCCCACCCCCGCTGCCTCCCAAGCACTGAATCCGCAAGCACAAAAGCAAGTGGGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGACCTGGTATCTGCATGAATGCTAACTTTAACCAGACCCACCCAGGCCTCCTCAATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCACAAGGGCAGGCGCAAGTCATGAATGGATCTCTTGGGGCTGCTGGCAGAGGAAGGGGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGCGCCTCGAGCAGCGTGCTGGCTGAGACCCTAACGCAGGTTTCCCCGCAAATGACTGGTCACGCGGGACTGAACACCGCACAGGCAGGAGGCATGGCCAAG
Seq C2 exon
ATGGGAATAACTGGGAACACAAGTCCATTTGGACAGCCCTTTAGTCAAGCTGGAGGGCAGCCAATGGGAGCCACTGGAGTGAACCCCCAGTTAGCCAGCAAACAGAGCATGGTCAACAGTTTGCCCACCTTCCCTACAGATATCAAGAATACTTCAGTCACCAACGTGCCAAATATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000005339-'0-2,'0-0,1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.897 A=0.998 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGTGGCTGAGATTTGGC
R:
TTCACTCCAGTGGCTCCCATT
Band lengths:
358-1071
Functional annotations
There are 1 annotated functions for this event
PMID: 9192902
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified, two hybrid. ELM ID: ELMI000789; ELM sequence: QLSELLR; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development