Special

HsaINT0153448 @ hg38

Intron Retention

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74239335-74242052:-
Coord C1 exon
chr2:74241994-74242052
Coord A exon
chr2:74239536-74241993
Coord C2 exon
chr2:74239335-74239535
Length
2458 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
TCCTGTGCTTGGTCTCCAAGTAC
3' ss Score
3.37
Exon sequences
Seq C1 exon
TGAATACAACCGTGTTCAATGCTTCAGCCCCATTGGCACCAGACACCAACGCTTCTCTG
Seq A exon
GTAAGTCCTTTCCTCTTATGTTAGACATTTGAGTGCTTTTGTTTGTAGGAGGAGGGAGAAAAGATTTTGGAAATGAGACCAACTTATGGCCTCCCAGACTTGCAGAGGTCAACTCCAGCTGCACGTCAGGGTCACCTGCAGAGCTTTGTAAATGAACACTTTTTTCTTAGGTATATACTGTAAACATCCCACTTAAAAACATGCCTCATTCTGTTAAATCCATGTTTTTTTGTGCGTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACCGCAACCTCCATCTCCCAGGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCATCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTTTTGAACTCCTGACTTCAAGTGATCTGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCCTCATGTGTATTAATAATATGATACGAGCTGGGTGTAGTGGTACACACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCACAAGAATTGTTTGAACCCAGGAGGCAGAGGTTGTGGTGAGCCAAGATCGCACCACTGCACTCCAGCCTCGGTGACAGAGCGAGACCCTGTCTCAATAATAATAATAATAATAATAATAATAATAATATGACACGCACACAAAGGAAGGGGAAGTAGAGATGAGGGATGGTAAATAGAGCCTCACAAAGCTGTAAGCAAAGCCTGCCATTCATTTTTCTGCCTTCTTCCTTCTCTTTCTGCCTAGGACCCCCAATTTCTAGCAGTGCCACTCTCCAGCCCCAGAGAGTTTATTAGTGTTTCTTCCTCAATGAATCTAATGTGTCCTTTGCACACCTTAGTCTCTGGGGCCTAAGGTATGGTCTGCCTTTCCCAGTAATGACAGTGGTCTTCAGGAGCCAGCATCCCAGCCTAAGTGGCTTAATGATAGAAGTTCAATTCCAGATGAAGGTAGCACCTGGTAGGACTTGGGGGACATTTGTGAGCTTTTACTGTCTCCAAGGTTGCTTCTTAAGTTATTCCTGCCTAGGCAATTGACTGCTCTGCCTACACACATCCTAGTTGGCAATTTAACTTAATATTTTTCAAAGATTAGGGTTTTTTTTTTTTTGAGATGGGGTCTTGCTCTGTTACCCAGGCTGGAATGTAGTGGTGTGATCGTATCATCACTGCAGCCTCAAATTCCTGAGCTCAAGTGATCTTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCATCAGCCACTGTGCCTGGCTAATTTTTAAGTTTTTTGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGCCAAGTATCAAATTTTGAGAGAGAAAGAACAGAATCAGTCAGTGCCTATTTCTGAATCCCTATTATATGCAAGGGGCCATGTGCACTGAAGGCTAAAAAAGACATCTAAGAAACCAACACAGAACCTGTCCTCAAATTTGTTTTTAATATATTTGTAGAGAAGAACCTGAAAAGTTATGGGACAGCATAAGCAGAATGTACCATGCATTAAATATAGGCCAAATGTGTACATCAATCTTGAAGGCAGGAAAGGAGGCTGCTGGAGAGGCCAAGAAAAGCCTCAAAGAGGAAGTAGAATGCGATCTGGTCTTCAAGGTTGGGAAAAAGTTGGCTCAGCAGAGAAAAGCACATTCCAGACTGAAGGAACAGCATAGACAGAAGGGCAAGAGAGGAAAAGCACAAAACCTGTGCAGAGGCTAGTGGGTGGGCTAGGCCAGCTAAGATGGGGTGAGGGTGGGGCTTGGAACACTGTCTCACAGTACACATCAGAGTGTGTCTCACAGTACACATTTATATATATATATATATAAATTTATATATGTATATATAAATAAATTTATATATAAAAATTCACTGTTGTGTATGCCTTGGATTTTAGGCATCTGAGACACCAAGGTGGGGAATGGCTGAAATGACCCAAGAGGGGACTGACAAGGGAGGTGATCCCCCATATATGAAAGGGTGTGACAGAGGGGATGGAGGGGAGAGAATAAAGATGAGACACTCCAGGAAGGAGGCGTCCACAGGACCTGTGGTTGGTTGATGGGAGCCAGGCATCCTGCCTCTGCACTTTTCCTACTTGCTAGCACAGCAGTGCATCCTAGAACACAATGAAGAAACACATGTGAGCTCCTAATCTTCCTAGGGAGCTTGTCATTCCTTGAACCAGCCCGTCCCCAGGAACATCACTCTGGGGGGCTGGGGTCCCTCAGAGGGTGGGAAGGTATGCTGGCTGCCTGGGGACTGCAGTGGGAAGGACACAGCTGACTCATCAGGAAGATGCTGACCCATTCTCTCCTGTGCTTGGTCTCCAAG
Seq C2 exon
TACAACCTCCTTAACCTCACAGCGTTGGACTGGTCCCTGCTGAGCAAGAAGGAGTGTCTGAGCTACGGCGGGCGCCTGCTTGGGAATTCCTGCAAGTTTATCCCAGACCTGGCGCTCATGTCCTTCATCCTTTTCTTTGGGACATACTCCATGACCCTGACCCTGAAGAAGTTCAAATTCAGCCGCTATTTTCCTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687:ENST00000377634:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(3.5=100)
A:
NA
C2:
PF0095516=HCO3_cotransp=FE(12.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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