HsaINT0000716 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69273959-69277842:-
Coord C1 exon
chr17:69277641-69277842
Coord A exon
chr17:69274129-69277640
Coord C2 exon
chr17:69273959-69274128
Length
3512 bp
Sequences
Splice sites
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
3' ss Seq
TGTTTTTTTTTTCTTTTCAGGTT
3' ss Score
13.48
Exon sequences
Seq C1 exon
ATTATAGTGTATTTACTCAGCAGCCACTGGAGGAAGAAATGGATTCAAAATCTTTTGATGAAATGGAACAGAGCTTACTTATTCTTTCTGAAACCAAGGCTGCTCTAGTGAGCACCATGAGCCTTTGGAAACAACAGATGTATACAATAGCAAAGTTTCATTTCTTTACCTTGAAACGTGAAAGTAAATCAGTGAGATCAGT
Seq A exon
GTAAGTATAATTATCACCCTTATACCTGATGGATTGCTTTTTAAGGATACACATTGGTTTTACCATCTTAATTTTTAAAATGTTAACATATGTAAATAATTTATATAGTTTCGAAAGATTACCACTGTAATTTCACAATGTTAGAGAAAAAAATTACAATAATTTCATCGAATACCCTGTCTTACACTTTTTAAACTAGCATTTATTGTCTCATCTATAAAGTGAGGAAATAACAAATATTCCCTAATTGTATAATTTTTTAATTACTGTCATTGTATCTTTTTCTTTCTTTCACCTGGGAGCACAGATTCAAGTTTCCTTGAATATATTAATACACTCCCCATTGTATCTTAAATTTTGTTTTGCGTTTCTATTTTTTCGCTATTTTTTGCGTCTATTAGTTAGTTTTTATAACCACTTTTTGTAAGTAGCAGGAAAAATGAGTTTTACCTCTATTTATCCTATGAGGAAACTGAAAAATAAAGAAGGCTACATAGCTAGTAGATCTGGGATCAAAATGACATCTCAAGTTAGCTTTAGCCCTTCTCAGTTAGGTTCTCCTAGGGTACTAGGAACTGAATAATTTGGAAATAACATTAACCACTTTCATATACCACACACCTATCTTGTTAAGTCCAAAATGTCAGTAGTAATAAGGCTTAATCATTAAGATTAAGAATATTGTTATATGTTTGGAATATGCTAAATTTATATGCTCTTCTTTGACCAAATTCAGTGTCAAACAAATGTCAATCACGTATCTGATTTATTCCCTGGTCGGCATTACTGAAAGAAAAATGTTTATTTAAATCAGCATGTTTCAATTTATTTTATTATTTTTTTATACTTTAAGTTCTGGGATATATGTGCAGAACTTGCAGGTTTGTTACATAGGTATGCATGTGCCATGGTGGTTTGCTACACTCATCAACCTATCACTACGTTAGGTATTTATCCTAATGCTATCCCTCCCCAGTCCCAACCCTCCAACAGGCCCCGGTGTGTGATGTTCCCCTCCTTGTGTCCATGTGTTCTCGTTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCCTGTGTTAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTACCTTCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTAAACACCACTCTCATAAAATACACTCAGAAAAATAATTAAAATACCATCTGGGCTCGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAGGAGATCAAGGCCATCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCTCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCCTGAACTCGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCCCTGCCCCCCCGCCCCCCCAAAAAAAGAAAATTAAAATACCTTAGTCAGCTTTGACTGCCATGACAAAATACCATTTACTGGGTGACTTAAACAGAGTATTATTTTCTCACAATTCTGATGGCTGCAGTTCTGAGATCAGGGTGCCAGCATGGTGATGGCTGTCTTCCTGGCTTGCAGAAGGCCACCATCTCACTGTGTGCTCATATGACCTCTTCATGTACACTGGCATGCACCCTCTGGTGTCTCTTTATAAATGTACTAATCCCATCATGGGGACCCCACCCTCATGATGCCATCTGATGCAGATTACCTTTCCGAAGTCCCATTTCCAAATACCATCATATGGGAGTTAGGGCTTCAACATACAAATTTGGGGAGGCACAAACATTCAATCCATAACAAAATGTGTTCCATGGTCAAATACATTTAGAAAATATTACTCTTATATTCCCTATATTAAAGAGTTATTCATTAGCATAAAAAACATGAGATGTTCTCTGGTAAAGAAATTCCTTCAACTTTGTTTAACCTCATGTTTCCAAATATTATTTAATTGTGAATATTTTTTAACCTAAATCACTTCTTAACTTATTATGGAACTTGATCAATGCCATATGCTTTTGAAATCTTAGATATAACAATTTAAGAATTTTTTTAAAAAAATTACGGGGTATGTGAAATTTATAAATTGCTGAAGTATGATAATCTAAGCTCTCCAACTGCTTGTTAGGACACTTATTACATGTGATATATAGATATTTTATCAGATAAGTAGCTGCTCTTCAGATAAAAGGGCATTGTAGTATACCTTGCTTTGCCTCCTGAGAGCAGCAGTGGCAATTAATATGATAAAATTGCGATTAGGATGAGATTTCAAAGATATCAGCCATTCAGAGTTTAATTGTATTTTTATTTGCTTCTCTATATCTAAAATATTTTTCTTGTTACGTGAAAAGTAAATGGGGCTGGGTGCAGTGGCTCACACCTGAAATCCCAGCACTTTGGAAGGCTGCAGCAGCTGGATCACTTGAGGCCAGGAGTTTGAGACCAGTCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTACAGTGGCACATGCCAGTCGTCCCACCTACTTGGGAGGCTGAGGCATGACAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTAAATGGTTAAGATAGAGACAGGACAGGAAGTAATTCCTTCAGGAGTAGAGACAAATATTTGAGACATAATGTCTTGTGTTTTAACAGTTATAACTACGTGTTTACATACTCTTAGAAAAATTTAAGGGCATCACTGATCTAAAATACACTTTTATAACTTTTAATTTTGTCGTACAGTATTGGCTTTCTCTCCAGTATTGTCATAAGATCATTTTGGGGAATACGATTTCTTATTTTTTTTTTTCAGTTTTTTTTCTTTGTTTTTTTCAGTGATTATCTTTTAACTATCTAGAGTTTAAATCTATACCAATGTAGGCTGGTCAAGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAAGCTCCTTGTTTGAGCTCAGGAGTTTGAGACCAGCCTTGGCAACATGGCGAAACCCCATCTCTATAAAAAATAACAAAAATTAGTTGTGTATGGTGGCGTGTGCCTGTAGTCTCAGCTATTTGGGATGGTGAGGGGAGAAGATTGCTTGAGCCTGGGAGGTGGAGGTTACAGTGAGCTGAGATCATGCCATTACACTCCAGCCTGGGTGACAGAACCAGACCCTGTCTCAAATAAAAACAAAAAAAGTCCATATCAATGTGAAGGGAGAGTTTTAATTGATTTTCATATTAATGTACCTTTGTACCCTGAGCTGTGTTGTTTTTTTTTTCTTTTCAG
Seq C2 exon
GTTGCTTCTGCTTTTAATTTTTTTCACAGTTCAGATTTTTATGTTTTTGGTTCATCACTCTTTTAAAAATGCTGTGGTTCCCATCAAACTTGTTCCAGACTTATATTTTCTAAAACCTGGAGACAAACCACATAAATACAAAACAAGTCTGCTTCTTCAAAATTCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:19
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:
PF126982=ABC2_membrane_3=PU(3.7=20.6)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(15.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- Autistic and control brains
- Pre-implantation embryo development