HsaEX6023014 @ hg38
Exon Skipping
Gene
ENSG00000004939 | SLC4A1
Description
solute carrier family 4 member 1 (Diego blood group) [Source:HGNC Symbol;Acc:HGNC:11027]
Coordinates
chr17:44253118-44255296:-
Coord C1 exon
chr17:44255207-44255296
Coord A exon
chr17:44254496-44254662
Coord C2 exon
chr17:44253118-44253371
Length
167 bp
Sequences
Splice sites
3' ss Seq
CCTGCTACCCCCTCCCACAGAAA
3' ss Score
9.68
5' ss Seq
CACGTGAGA
5' ss Score
5.23
Exon sequences
Seq C1 exon
CTGCGTCGGGTCATCGGGGACTTCGGGGTCCCCATCTCCATCCTGATCATGGTCCTGGTGGATTTCTTCATTCAGGATACCTACACCCAG
Seq A exon
AAACTCTCGGTGCCTGATGGCTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCGTTCCGAGTTTCCCATCTGGATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCAC
Seq C2 exon
GCTGATTGTCAGCAAACCTGAGCGCAAGATGGTCAAGGGCTCCGGCTTCCACCTGGACCTGCTGCTGGTAGTAGGCATGGGTGGGGTGGCCGCCCTCTTTGGGATGCCCTGGCTCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCATGGGCAAAGCCAGCACCCCAGGGGCTGCAGCCCAGATCCAGGAGGTCAAAGAGCAGCGGATCAGTGGACTCCTGGTCGCTGTGCTTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004939-'25-31,'25-26,26-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF075658=Band_3_cyto=PD(1.1=40.0),PF0095516=HCO3_cotransp=FE(1.8=100)
A:
PF0095516=HCO3_cotransp=FE(19.4=100)
C2:
PF0095516=HCO3_cotransp=FE(29.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTTCGGGGTCCCCATCTC
R:
CTTTGCCCATGACAGTGAGGG
Band lengths:
245-412
Functional annotations
There are 1 annotated functions for this event
PMID: 10364201
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000605; ELM sequence: SNSSAR; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains