HsaINT0000532 @ hg38
Intron Retention
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48389040-48392139:+
Coord C1 exon
chr7:48389040-48389220
Coord A exon
chr7:48389221-48391920
Coord C2 exon
chr7:48391921-48392139
Length
2700 bp
Sequences
Splice sites
5' ss Seq
CATGTGGGT
5' ss Score
2.93
3' ss Seq
TGTCTTATTTTCTCTGGCAGATC
3' ss Score
11.39
Exon sequences
Seq C1 exon
GGTCATCACTGCAAAACAGGGAAGGAGAGCTTGAAGGAAGTGCCCCGGGAGTCACCCTGGTGTCTGTGACCAAGGAATATGAGGGCCACAAGGCTGTGGTCCAAGACCTCAGCCTGACCTTCTACAGAGACCAAATCACCGCCCTGCTGGGGACAAACGGTGCCGGGAAAACCACTATCAT
Seq A exon
GTGGGTCCCATTTTACCCTTATCAAACACTGGGCATTTGATTCTTAAAACTTCAGTTTACCTGTGAGACAGAAGGTTTGATTTCTTTTCCTTTTTTTAAAATTTTGAGTCTCAATACAGAGTTTAGAGACACGGGTGAAAGGCAGAGCCCCTCATGAGTGCCCGTGTGAGAGAGGCCCTATGTCTTCAACCGCACAGGTGCACTGTAGGCCTGGGGCTCAGTCAAAGGGGTAGTGGTGGATAGCTTTTTAAAAGGCTTAATTCTTGTATTTTCTACAAATAATTTACCATGTTGTACTTTAGTCTTTGAAAGTCCTTTGGCACTTTCAGCGTTTGTCCTACTAAGTATCATCTTGCTTGCATATCTGTAGGAAGAGGAATATCACAGTGGTACTTGCAAATTTTTTAAACACCTGATTATTTTTCTTTTCCATGTTCTGGTTTTTGTGTGGTTCTTTTCTCATTAAGGGTAGATGTTTGGTTTAGGATTCAATGGCTCTAGATTTGATTAAAGAATCAAATCATGTGCTCCCAGAGAAACAATGAATTCAAACATTCACAGCCTTGGGCTGGCTGTAGAAGTGGAGGTTTAAGGTTAAACTACTAAAATTATGAAATATCTCTTTTGAACAAATCACTTTCTCTTTTGTTCTTTTTCTCACTAAATATGTAGTATTAAAGTGTGATTAGTTAAAACAATGAAGAGGGCTTTGCCTCAGACTTAATAAGAAAGGTAGAAAAATAACACATGAAACTTCAGAAATCTCATACTGAAAAAATAGAAAGAAAGAATATGGACAGTTTTTATTTGTTCCTTGGATACAGAAATGGACCTGGAAAAGCGTGTGAGTGTTTTTTTTAGTGTTTGAAAATTGGGAAACCACAAGTTGCACAAATAATGACTCAGCCAGCCAGTTCCTCTCACCCTGCTTTTACTAAGACACATTTCTTACAAGGAAAACCTGGGCTGCTTGTTTAGCAGAATGATGAGAATTGCATTTGGAGTTTCTAGATGATTTAAAGTTCAATGACTGTGTTGCTTTTAGTGTACATTTGTAGTACATTTTGAGTCATCCTAAGTGGCTGCCTCCACCTGGCAATTCTTAGATGAAAGGCTGAGAGGTCAGTCAAAGACGGGGGGGTCTTCACTATTTAAAACAACAGTCTTTGAGACTTCTAGGGAATGTGTATAAACTATTTTATAGTATCCCCCAGATAGGTTTGAAAATAATATAGCAAAGAGTTTTAAGTTCATCGAGGTTTAATTTTTGTGCAGTAAACAGTATCTGTTGATGTGTACAGTTTGATGAGTTTTGACACATTTGGTTAGTGCCGGAACAAGCACCACAAATACAGAACCTTTCTATGCTGCTCCAAGGTTTCCTGTGCTCTCCTTTGACCCTGGCCTTCATGTGACCACTGATCTGCTCTTTGTCACTAAAAACTAGGTTACTTATTCTAGAATTTCTTGTAAATGGGATCATGTCTGGCTTCTTGTACTCAGCAGACTGTTTTGGGGACCCAGGCATGGTGGTGGTGGCCCAGCAGCCTGCTCCTTGGGACAGCTGAGTGGTATCCACCATATGGAGGCAACCCAGCTTCTTTATGTTTTCATCCATGGGTTGCAACTGAGGTTGTTTCTCTTTGTCAGTGATTGTGAACACAGCTGCTGTGAACATTTGTGCATACAGCTTTGTGTCGGCACACATTTAATTTCTCATGTGTAAATACTAAGGAGTGGATTTGCTAGGTCCTGTGTGGTAGGGGCATGTTTAACTTTTCAGAAATAAGAAACCAATTTAAAACTTAAATAATAAACTTCCTGAAACAAGGAAGCAGAACTAGGCAATTCTGAGGCTTCTGTTGGTAAAGTCGGTCATGTGAGCTTGTGGTGGCAGGCTGCTTGATTTCTTGTGGTTTTAACACACACAGACTATCCCGGGAGCAGCGGAAAGAAGACTGGCTCCAGGGTTGGGGCCTAGCTTTGTATCTCTGTTTTGCTTATATTTAATGATGAGGATTTAGGTATATATGTCATTTCTTTAGCATGTTTCCTCATCTGTAAAAAGTTGAATGTTATCATCTTAAAGTCCCATACAACTATAATGCTCTATGATTGCAGTTCAGACTTACAATGGTTCAACTTAATGATATTTTGACTTTATGATGGTGTGAAAGTGATACATATTAGGTAGAAACCATAGTCTGAGGACTCATACAGCCATTCTGCTTTTTACTTTCAGTACAATATTCAATAAATTGCAAGAGATATTCAACACCTTATTATAAAATACGCTTTGTGATAGATGATTTTGCCCAGCTGTAGGCTAATGTAAATGTTTTGGGTACACTTAAGGTAGGCTAGACTAAGCTGTGATGTTAGGTAGGTTAGATGTAAATAGATTTTTGACTTACAATATTTTCAACTTTTTATGGGTTTATTGGGACATAACCCAATCAGAAGTCAAGGAGCATTTTTATTTCATGTGGTAGCATAACATGTTAAACTCACATTTTCAACATCAACCAGCCAATGTACCCTCAAACTACTCACACCTTTTAACTGATTGTGTAAAAACCAGGTCAGCAGAAGGTGAGTGCTCTTGGCAGGATGCATGCGCCATCCTGGAGCTGACTGGATTGCTGACGTTCACAGTATCAGCAACGCGTATTCTCCATGCTGTCTTATTTTCTCTGGCAG
Seq C2 exon
ATCCATGTTGACGGGGCTCCACCCTCCCACTTCTGGAACCATCATCATCAATGGCAAGAACCTACAGACAGACCTGTCGAGGGTCAGAATGGAGCTTGGTGTGTGTCCGCAGCAGGACATCCTGTTGGACAACCTCACCGTCCGGGAACATTTGCTGCTCTTTGCTTCCATAAAGGCGCCTCAGTGGACCAAGAAGGAGCTGCATCAGCAAGTCAATCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869:ENST00000435803:37
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.049 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(18.4=44.3)
A:
NA
C2:
PF0000522=ABC_tran=FE(49.7=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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development