Special

HsaINT0039122 @ hg19

Intron Retention

Gene
ENSG00000081052 | COL4A4
Description
collagen, type IV, alpha 4 [Source:HGNC Symbol;Acc:2206]
Coordinates
chr2:227872734-227875217:-
Coord C1 exon
chr2:227875029-227875217
Coord A exon
chr2:227873021-227875028
Coord C2 exon
chr2:227872734-227873020
Length
2008 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGG
5' ss Score
5.53
3' ss Seq
TCTCTTCTTCCCTTCCCAAGGTC
3' ss Score
10.39
Exon sequences
Seq C1 exon
GGCCTCCTGGTCCCATTGGGGATCCTGGGCCCAAAGGGTTTGGCCCTGGATACCTCGGTGGCTTCCTCCTGGTTCTCCACAGTCAGACGGACCAGGAGCCCACCTGCCCCCTGGGCATGCCCAGGCTCTGGACTGGGTATAGTCTGTTATACCTGGAAGGGCAAGAGAAAGCTCACAATCAAGACCTTG
Seq A exon
GTATGGATACAGGATCGCCCATCTCCATTGCCTGAAGAGTAAAATTTGGGGTTAATTTTACTGATTCATCAGCACCTTAAATGATCACTAACCTTATATGGGATTATTCTTACTTTTAAAACAAAAACACTAGCATGGTCATTCTCAGCTAATCCTTTAAACTTATGATCCTATGAAGTGTCAAAGAAGCTCATTCTGGCTATAATTATTATCTGGCTATAATAAGTATATTATTATTATCTGGCTAATAATAAGTATATTATTAGTTTTATAAAAATGATTCTTCCTCAGTAAGTTAAATGTAACTCTGTTATGAAATGTACTTTTTGCTTCCAAATGTAAATTAACCAGAATGTGGTCAGTTCCTGTACTTACATGTAAAATGGTGCAGCCACAGCACGCTGATGGTTGTGTTACGGCACTTGCCAGCATCAACTCCCTACCCTACTCCAATTTAAATTACAGAACTTTATTTTGAGGGTCATCTTTTGGTGCTCCTTGTCACTTCTCCGCTCTCCGCTCTTCCCCTCCCCTACCTTCCCCTCCCCTCCCCTCTTCTCTTCTCTCTTCTCTTCTCTTTTCTCTTCTCTTCTCTTTTCCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGACTTGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGCTGGGGTCTTGCGGCCAGGTAGGTCTCGAATATCTGACCTCAGGTGATCTTCCCGCCTTGGCCTCCCATAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCCTTGCCAATTTTCAATAGTAGATTTGCAAGCTGCGGGACTGATTTCAAGTCAAAGGCTTAAGTACCTGGCTGCCGGGAAACACTGTCTTTCCAAGAAAATCATGGTTAGAATGGAAGGTGCAGGAAGGATATGCTGACGGGGACAGTTGACGGTGAGGTGCTTGCCATTGCTCTCACTAGGCAGTGACCCCAGCTGTTAAAAAGGGTAGTCAAAGAGTGCAAGCCTGGGCTGGCAACTACTTGTACATCCCCTGCATTTCTCCCTTGGGTTTGGCCATGGCCTTTCCCATCACAAGGGGCTAGTTTCTTTGAGCACAGGAGAAAGGAGGAAGTGATGTTTAATATCCTGAATCTGTTTCCTTCTCTCCTTCTCTCCCTCTGCCATCAATTTCTTTCCTGCCTGGTCTTTGTACCATCATCCGTCTTGCTTCTCCCACCTTGGTCTAACCAGAGCACACATCTTAAAACTCTGCAGAACTCTTGGGATAAAGTCCAAACTCCTTAACGAGATTGACAAAGGCCACATCCAATGGTCTGATTTATCACTGGACACTCCTGAGACAGACAGTGCAGACACCCTCTCCTCATAGTCCCTGCACTGAACATGTCTGAGTTCTCTGAGCTCCACGATCCCTTATCTCCAACCCCCTCTGACGGTATATCTCTTTTGAGTAGTCACTACCACCATCTCCAAGCCTGGCTAAATCCTCTTCATATTTCAAGTCCTAACTTAAAATCACATATTCCAGTTATCCTTCCTTGAGGTCCCGGATCCCCACACTTCTCATTCTTAGGGCTTGTTGTGCTGTATTTTCATTGCTTGTTTGCTCATCCAGTTCCCTGCTAGGCCATGAGCTTCCTGAACACAGAGATGTGCTTGGTGCCCACCTCCAGCACCTGGCCCCCTGCTTGGCTCGAGTGAGGGATGAGGGGATGAGGGCTGGCCCACAGGACCAGGGAGGTGTCAGAAATGGCTTCCTCACCACAGAAGCAGGCTTTGGCGAGGGCCTCCAGATTTCAGAACACGTATCTGCAAAGGCCAGATGGAGGAAGGAAGGGTCTGGGAACACCTACATGGGGTGCTTGGACACCAGCTGTCTCTTCTTCCCTTCCCAAG
Seq C2 exon
GTCTGGCAGGGTCTTGCCTTCCCGTATTTAGCACGCTGCCCTTTGCCTACTGCAACATCCACCAGGTGTGCCACTATGCCCAGAGAAACGACAGATCCTACTGGCTGGCCAGCGCTGCGCCCCTCCCCATGATGCCACTCTCTGAAGAGGCGATCCGCCCCTATGTCAGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGCCAGGACCAGTCCATCCCCCCATGTCCGCAGACCTGGAGGAGCCTCTGGATCGGGTATTCATTCCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052-COL4A4:NM_000092:46
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.281 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(31.7=29.7),PF0141314=C4=PU(39.8=67.2)
A:
NA
C2:
PF0141314=C4=PD(59.3=66.7),PF0141314=C4=PU(25.6=31.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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