| General information of RDP00484 | |
|---|---|
| Gene Symbol: | NRXN1 |
| RefSeq ID: | NM_001135659 |
| Repeat coordinate: | chr2:50346872-50346899 (-) |
| Repeat size: | 9 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.558; 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 |
| {Schizophrenia, susceptibility to, 17}, 614332 (3) | 600565 | 2p16.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CHROMOSOME 2p16.3 DELETION SYNDROME | NM_001135659 | 0.40 | 0 | 1 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
50346870
281242
GCGCCGCCGC
G
.
2
50346870
287918
GCGCCGCCGCCGCCGC
G
.
2
50346882
392825
C
T
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
50346870
.
GCGCCGCCGCCGCCGC
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
50346870
rs766368745
GCGCCGCCGCCGCCGCCGC
GCGC,GCGCCGCCGCCGCCGC,GCGCCGCCGC,G,GCGCCGC,GCGCCGCCGCCGCCGCCGCCGCCGC
776466.38
2
50346873
rs532881721
C
G,T
777713.83
2
50346875
.
G
T
712313.10
2
50346876
.
C
G
716916.60
2
50346880
rs773983971
C
T
600145.94
2
50346881
.
G
A
604088.07
2
50346896
.
G
A
1016.66
2
50346897
.
C
A
230.47
2
50346898
.
C
T
253.75
2
50346899
rs550290127
GC
G
2409.58
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
50346870
rs766368745
GCGCCGCCGCCGCCGC
GCGCCGC,G,GCGCCGCCGCCGCCGCCGC,GCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGCCGC,GCGC
335487.98
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
50346870
rs762829306
GCGC
G
.
2
50346870
rs754508493
GCGCCGC
G
.
2
50346870
rs750165040
GCGCCGCCGC
G
.
2
50346870
rs751162302
GCGCCGCCGCCGC
G
.
2
50346870
rs776077507
GCGCCGCCGCCGCCGC
GCGC,GCGCCGC,GCGCCGCCGC,GCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGCCGC,G
.
2
50346873
rs532881721
C
T
.
2
50346880
rs773983971
C
T
.
2
50346893
.
G
C
.
2
50346894
.
CCGCCGC
CCGCCGA
.
2
50346896
.
G
C
.
2
50346897
.
CCGC
CCGA
.
2
50346898
.
CGC
CGA
.
2
50346899
rs13413205
GC
GA,G
.