| General information of RDP00479 | |
|---|---|
| Gene Symbol: | ERF |
| RefSeq ID: | NM_001301035 |
| Repeat coordinate: | chr19:42253860-42253887 (-) |
| Repeat size: | 9 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.843; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Craniosynostosis 4, 600775 (3) | 611888 | 19q13.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Familial lambdoid synostosis | NM_001301035 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
42253859
.
AGCCGCCGCC
AGCCGCCGCCGCC,A
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
42253859
rs530928991
AGCCGCCGCC
AGCCGCCGCCGCC,A,AGCCGCC,AGCCGCCGCCGCCGCC,AGCC,AGCCGCCGCCGCCGCCGCC
355881.18
19
42253863
.
G
A
64372.37
19
42253864
.
C
G
65489.18
19
42253867
.
C
G
61574.77
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
42253859
rs530928991
AGCCGCCGCC
A,AGCCGCCGCCGCC
.