HsaINT1000107 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94060537-94062753:-
Coord C1 exon
chr1:94062577-94062753
Coord A exon
chr1:94060760-94062576
Coord C2 exon
chr1:94060537-94060759
Length
1817 bp
Sequences
Splice sites
5' ss Seq
TTCGTGAGT
5' ss Score
7.9
3' ss Seq
CTTCTCTCCTTTTGCTTTAGTTT
3' ss Score
9.46
Exon sequences
Seq C1 exon
GTATTGGGATTCTGGTCCCAGAGCTGATCCCGTGGAAGATTTCCGGTACATCTGGGGCGGGTTTGCCTATCTGCAGGACATGGTTGAACAGGGGATCACAAGGAGCCAGGTGCAGGCGGAGGCTCCAGTTGGAATCTACCTCCAGCAGATGCCCTACCCCTGCTTCGTGGACGATTC
Seq A exon
GTGAGTCTGAAGTTCGCGATCCTCCTCCATGACACGCTAATGGGGGTGCTGGAGTGGGCTGGGGTGGGCTGGGGGTGCCCTCAAGGCTTCCATGTCTTTAGAGAGAGCCCCAGGGACCAGAGCCAAATTGGAGAGCATGGAGCTCTGACTGAGGAACCTGCTTCTCCCAAGCTCCAGGCAGGCACAGATGAGTCAGTGCAGTGGTGGGAAAGGGAAAAGAGTTGATGTTGTAGCTGGAAAAGGGAAGGGGAAAATTAAAGCAAGGAAAGTGAGGCTGGGGGAGGGGACAAATTCCCCACTATGTAGTATGTTTGGTATGTGGAAGGGTTCTGGTCAGAATGTTTGCCCAATGATTGCCACATCAGCATTCATTTTGGACTCTGTATGGCCAGTAGGTCTGGTTCCTGGGAGCCCTGGAATAATGCAGCCCCTTCCCTAACTAACATTTCCATGATGTATGCTCAATGACAAGGCAGAGGAATGTGTTGGATGAGCTCAGGACCTGCCTCCCTGGACACTCCCATCCCAGGCCTGTATATCTGTTGACCAGGAATAAGCCAAGCAAGCAGCCTACTGTTTGACTGAATATGGATTTGGGGGGTGGTAGAGAAAGGGCCGGGGTGGAGGGTTGGGAGGCTCATTTGTCATTATAGATGGGGTCAGACACACTACCAAAACAGCAGCAGAGATCTACAATTGAGTTCACCTAAAACTCAGTGTGGACACAGGAAACCCTCTTTTAATAACTGTCCAATGGGTTTTCCAGCCTCAGCTCTACAGAAAACTTGAGATAACAGTGGCCAGTCTGCAGTTAGTTTGGGTTCGGACAATAGGCAGAGCTGGGAAATGGAGCCAGGGGCGAAAGCCCAGGTCCACTTTAGGATCAGGACGGGAGTGGCTGGTGGGGAAGTGAGGTGGGTGTGGGGAGGCAATAGGGAGCTGGGTCATTTGGTATGGGAGAGTCCTCTGGTGGCTAGTCCCAGAAGTGCATGCTTTACGAACATATGCTTCTCTCCCTAGGGCCACCTTGAGTGAAACCCTCCCATGCTGGAATTGGGCCCTTTCAGTGACAACACACAACAGTTTTCAATAGATAATAATCCCAAGGGCTTTACTAGCACATGAAACACAGGGAAAACGTGTAAAGTTCACAAGAAAGTCGTTCCAGTGTATCAAATCTATCCTGTTTGCCAGGTGGATATACCAGGGTCTCCTCCACCTGTGCATGGCTGGTGGTGGGTCCAGTGGCTGTTGGATAACTGATGTATTGATGGATCATTCGCCTTCTGAAAGTGCCAAACTGATTAGTTATTTTGTGTGTCTTTTTGTGTAACTAGGGTTTGACCTTCCAGGGCAGACTGTGCTGGGGCGGCTGACCCCTTGGGGAGCCAAGTTATTGCTCTTACCACCACCACTTGCCCTTGTCAGTCCTCCACCCTCTTGGGTTTCAGTGTCAGCATGTAGCTGTCTACTCAGATCCCATCCACATCATCAAGTCTGCAGTTTTTTCCTTGCAAGGCCTTACAGGGAAGATCTTTGACATAGAGGATATAATTTTATTGACACATTTTACTTGCAGAGCATTCACCCGGGCTAACCAGAAAGCCAGCACTCTGCTATAAACAAAAAATAATGCTTCAGGGCTAACATGGAATGTGTTAAAAGATTCCAGCCCATTAAATGTCCAGGGGAGGTTTTCCTGTTTTCCTTTCCCTCCATCTGGGCTTTGTTCTCAACACATTCATTCAACAAACATTTATTCTGCCTCTACCAGGTACAGAGCACTCTACTATTCTGCTTCTCTCCTTTTGCTTTAG
Seq C2 exon
TTTCATGATCATCCTGAACCGCTGTTTCCCTATCTTCATGGTGCTGGCATGGATCTACTCTGTCTCCATGACTGTGAAGAGCATCGTCTTGGAGAAGGAGTTGCGACTGAAGGAGACCTTGAAAAATCAGGGTGTCTCCAATGCAGTGATTTGGTGTACCTGGTTCCTGGACAGCTTCTCCATCATGTCGATGAGCATCTTCCTCCTGACGATATTCATCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:13
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=FE(17.2=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(21.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATTTCCGGTACATCTGGGGC
R:
TCGTCAGGAGGAAGATGCTCA
Band lengths:
352-2169
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains