HsaEX0017193 @ hg38
Exon Skipping
Gene
ENSG00000005339 | CREBBP
Description
CREB binding protein [Source:HGNC Symbol;Acc:HGNC:2348]
Coordinates
chr16:3810603-3880726:-
Coord C1 exon
chr16:3879832-3880726
Coord A exon
chr16:3850297-3851009
Coord C2 exon
chr16:3810603-3810779
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-'0-17,'0-3,10-17
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.897 A=0.995 C2=0.986
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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
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