HsaINT0153444 @ hg38
Intron Retention
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74250343-74252388:-
Coord C1 exon
chr2:74252179-74252388
Coord A exon
chr2:74250518-74252178
Coord C2 exon
chr2:74250343-74250517
Length
1661 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCCC
5' ss Score
5.96
3' ss Seq
CCTGGGCCTGTCTTGAGCAGGTT
3' ss Score
6.54
Exon sequences
Seq C1 exon
GAAATCTGTGTTCTCCCTAGCAGAGCTGGGCCAGATGAATGGCTCTGTGGGAGGAGGCGGCGGAGCTCCTGGAGGAGGCAATGGAGGTGGTGGTGGTGGTGGCAGTGGCGGCGGGGCTGGCAGTGGCGGGGCCGGCGGAACAAGCAGCGGGGATGATGGAGAGATGCCAGCCATGCATGAAATCGGGGAGGAACTTATCTGGACAGGAAG
Seq A exon
GTGCCCACCCCAGGCCTCCCAGTGACCCTGCTGTCCTTTAGACTTCTCCCTTCTCAGCTGCCCTCTAGGGACTTTTCCCAACCATGGTCTGTAGTGCCCACTCGAGGTCACCCCTGCCTTCTTTCCCTCCCAGAGCCCTTGAACCCCATCATGGATCCCCAAAAGGTTGCCTCAGGAGAGGGGAATTTGAGACCCATACAAGAGGAGAGGAACCCAAACTTTTCTCTTAGATATCCTTTGGTGCCTGTTTCCTGGGTCTGCTGTAACAAAGTACCACAAACTAGGTGGCTTAAAACCACAGAAGGTTACTCTCCTGCAGTTCTGGAGGCCAGGAGTTCCACAGCAGGTGTTGGCAGGACCACCGTGCTCCCTGAGGCTCCAGGTGGAATCCTTCCTGGCCTCCTCCTGGCTTCTGGTGGTGGCCAGCAGTCCTTGGTGTTCCTGGCTGGCAGCCGCATCACCCCCGGCTCTGCCTCTCCACCACATGGCCTCCTGTGTGTCTGTCTTCACAGAGCACTTTCCTCTTTGTGTATGGACCCCAGTCATGTTGGAATAGGGCCCACCATAATGACTTAATCTAAACTGGATTACATTTGCATAGGTGTTACATAGATGTTAGGACCTTAATATATCTTTTGGGGGGACACAACTCAATAACAGTACCTTTTTTAAAACTTAATTTACCTATTCAAAAACTTTTTTTTTTTTTAAAGAAAATAAGAGAAAGTTCTCCTGGCCTGGGTTTCTTTTCCAGCTCTTGGAGTCATTCAGGTTGATCTAGATTTAGGAAAGGATGTGGCCTTGAAAATCTACATATAAATCATGACTTTGAGAATGAAGTCATGTTTTATATGCCCTTGGCTTTATACCAGTGGTTCTCACTGTAAGCAGCTTTGGCCCTCCTTAGTCCCCCTACCCCCGAGCCCAGGGAATTTGGCAATGTCCAGAGACATTTTTGCTTGTCACAACCGGAGAGGGGAGATGCTACTCGCATCTAGTAGGTAGCTGCTAAACATCCTGCAGTGCATGGGACAGCCCCTGCAGCAAAGGAGTATCCAGTCCAAAATATCAGCAGAACTGAGGTTGAGAAACTCTGCTCCATGCTAAGGACTGCATTAGGGGCTATGGGAATAGCAATCCCAGTAAACAGTGTCTCCAAACCTAAAATCTTCCACTCAGCTGTTCCAGATAGCAAAATCAAAAAACAAACAAATACCAACCAGTTATAAGGTTTAGGATCTGTTCTTAATGAATCTGTTATAATCTGGGATGCTTCTGTCACCGAAAGTTAGACACTCCTGTGTTCACCAAGAGCAGGCACCCTGCAGATGGTCAGGGATGTGAGGAGGACCACCATCTGTGGACCCCAGGACTTCCATTCTCCATGGAATGTTAGGTCTACCCCAGGACATATTCCCATCAGACTTTCCCTCTCCAAAACCCTCTATGTCCACCCTTCCCAATGTGGGTGGTGCCAACCACAAACTCAGTCCTACAGGAATTCATCCCTGGCCCTAAATGTTCTGGTGGAAAGATCTTTGCCCCATCCACCCTGGTCAAGTTCCTTTCCTCGCCCCAGACTCTGCAAGTTCTTGTAAATAGCCCTGCCCCTGCACTGGTGTTAGTGGTGAGAAAGCAGCCCCTGGGCCTGTCTTGAGCAG
Seq C2 exon
GTTCTTCGGTGGCCTGTGTCTGGATATCAAGAGGAAGTTGCCCTGGTTCCCAAGTGACTTCTATGATGGCTTCCACATTCAGTCCATCTCTGCCATCCTATTCATCTACCTCGGCTGTATCACCAACGCGATCACCTTTGGTGGGCTTCTGGGGGATGCCACCGACAATTATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687:ENST00000377634:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.563 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=PU(1.1=8.5)
A:
NA
C2:
PF0095516=HCO3_cotransp=FE(10.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGAATGGCTCTGTGGGAGGA
R:
ATAATTGTCGGTGGCATCCCC
Band lengths:
348-2009
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains