| General information of RDP00581 | |
|---|---|
| Gene Symbol: | CNTN4 |
| RefSeq ID: | NM_001206955 |
| Repeat coordinate: | chr3:2287711-2287777 (+) |
| Repeat size: | 22 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.012; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Craniofacial Abnormalities | NM_001206955 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
2287652
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAGAA
GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAGAA,G
207731.05
3
2287693
rs200043931
GGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA
GGAAGAA,GGAAGAAGAA,AGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA,GGAAGAAGAAGAA,G
963594.92
3
2287694
.
GAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA
GAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA,G,GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA
918150.17
3
2287697
.
GAAGAAGAAGAAGAGGAAGAA
GAGAAGAAGAAGAGGAAGAA,GGAGGAAGAA,G
2974373.91
3
2287699
rs778633474
AGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG
GGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG,AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG,A
2314955.75
3
2287700
.
GAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA
GGAA,G,GGAAGAA,GGAAGAAGAA,GGAAGAGGAAGAAGAAGAAGAAGAAGAA
2353742.08
3
2287702
rs200854515
AGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAG
GGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAG,AGAAGAAGAAGAAGAAGAAGAAG,AGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAG,A
2445241.65
3
2287712
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA
G
2116152.05
3
2287714
.
A
G,AGAG
2108428.14
3
2287715
rs778157912
GA
G
2803177.46
3
2287717
rs112060114
A
G
1844266.92
3
2287718
rs757505782
GAAGAAGAAGAAGAAGAAGAAGAAGAA
G,GGAAGAAGAAGAAGAAGAA,GGAAGAA,GGAAGAAGAAGAAGAAGAAGAAGAA,GGAAGAAGAAGAA
2425005.57
3
2287719
.
AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG
A
2619013.12
3
2287720
rs201325127
A
G
2615404.20
3
2287722
.
AAGAAGAAGAAGAAG
A
2444729.04
3
2287723
rs187324011
A
G,C
2502528.86
3
2287724
.
G
T
2238135.52
3
2287725
.
AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG
A
2311775.39
3
2287726
rs146336684
AGAAGAAGAAGAAGAAGAAGAAG
GGAAGAAGAAGAAGAAGAAGAAG,A
2327766.40
3
2287729
rs139588997
A
G,AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG
1954638.17
3
2287730
.
GA
G
1410179.86
3
2287731
.
A
AAGAAGAAGG
1408756.61
3
2287732
rs192679940
A
G,AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG
1418942.05
3
2287733
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
G,GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
1137898.11
3
2287735
rs184621302
A
G,AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG
1092949.38
3
2287736
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
G
948673.80
3
2287737
rs868727336
AAGAAGAAGAAGAAGAAGAAGAAGAAG
A
948102.55
3
2287738
rs188287499
A
G
967856.78
3
2287740
rs554808695
A
G
779666.27
3
2287741
rs192187803
A
G
792574.80
3
2287742
.
GA
G,TA
698117.37
3
2287743
rs868185018
AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG
A,GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG
699347.33
3
2287744
rs184967880
A
G
800188.44
3
2287745
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAA
G
355114.36
3
2287746
.
A
G
356832.86
3
2287747
rs554181988
A
G
394004.73
3
2287748
.
GA
G,TA
218175.70
3
2287749
rs533854846
A
G
217554.38
3
2287750
rs577984342
A
G
270331.27
3
2287751
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAA
G
157188.96
3
2287753
rs553513648
A
G
158632.52
3
2287756
.
A
G
152965.65
3
2287757
.
GAA
G
148609.30
3
2287758
.
AAGAAGAAGAAGAAGAAGAAGG
A
152689.73
3
2287760
.
GA
G,TA
154406.92
3
2287763
rs2948693
GAAGAAGAAGAAGAAGGAGAAGAA
TAAGAAGAAGAAGAAGGAGAAGAA,G,GGAAGAAGAAGAAGGAGAAGAA
1017598.90
3
2287764
.
AAGAAGAAGAAGAAGG
A
146891.55
3
2287766
rs536346523
GAAGAAGA
GAGAAGA,TAAGAAGA,GGAAGA,G,CAAGAAGA
151715.06
3
2287767
.
AAGAAGAAGAAGG
A
146635.50
3
2287768
rs556425690
A
G
146489.10
3
2287769
.
GAAGAAGA
G,GGAAGA
86478.98
3
2287770
rs576493082
AAGAAGAAGG
A
85755.12
3
2287772
.
GAAGAAGGAGA
GAGAAGGAGA,G
86903.23
3
2287773
.
A
G
86722.20
3
2287775
.
GAAGGAGAAGAA
GAGGAGAAGAA,G
86599.29
3
2287776
.
AAGG
A,GAGG
86690.20
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
2287710
.
AGGAAGA
AGGAGGA
.
3
2287711
.
GG
AA
.
3
2287711
.
GGAAGAAGAAGAAGAAGAAGAAGAA
GG
.
3
2287711
rs56014308
GGAAGAAGAAGAAGAAGAA
G,GG
.
3
2287712
.
GAAGAAGA
GAGGAGGA
.
3
2287712
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
GGAAGGTGAGGAGGAAGAG
.
3
2287712
.
GAAGAAGAAGAAGAAGAA
G
.
3
2287712
.
GAAGAAGAAGAAGAAGAAGAAGAA
G
.
3
2287713
.
AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
GAAGGTGAGGAGGAAGAGGAAGAAGAA
.
3
2287714
.
A
G
.
3
2287715
rs778157912
GA
G
.
3
2287716
.
AA
GG
.
3
2287717
rs112060114
A
G
.
3
2287718
rs757505782
GAAGAAGAAGAAGAA
G
.
3
2287719
.
AA
GG
.
3
2287719
.
AAGAAGAAGAAGAAGAAGAAGAA
GGGAAGGT
.
3
2287720
rs201325127
A
G
.
3
2287722
.
AA
GT
.
3
2287723
rs187324011
A
G
.
3
2287725
.
AA
GT
.
3
2287726
rs146336684
A
G
.
3
2287728
.
A
G
.
3
2287729
rs139588997
A
G
.
3
2287732
rs192679940
A
G
.
3
2287734
.
A
G
.
3
2287734
.
AA
GT
.
3
2287735
rs184621302
A
G
.
3
2287737
.
A
G
.
3
2287738
rs188287499
A
G
.
3
2287740
rs554808695
A
G
.
3
2287740
.
AA
GT
.
3
2287740
.
AAGAAGAAGAAGAAGAA
GTGAGGAGGAAGAGGAA
.
3
2287741
rs192187803
A
G
.
3
2287742
.
GAAGA
GAGGA
.
3
2287744
rs184967880
A
G
.
3
2287746
.
A
G
.
3
2287747
rs554181988
A
G
.
3
2287747
.
AGAAGAAGAAGAAGAAGAAGAAG
GGAAGAGGAAGAAGAAGAAGAAG
.
3
2287749
rs533854846
A
G
.
3
2287750
rs577984342
A
G
.
3
2287752
.
A
G
.
3
2287753
rs553513648
A
G
.
3
2287759
.
A
G
.
3
2287763
rs2948693
G
T
.
3
2287765
rs573531130
A
G
.
3
2287766
rs536346523
G
T
.
3
2287767
.
A
G
.
3
2287768
rs556425690
A
G
.
3
2287770
rs576493082
A
G
.
3
2287774
.
AG
CT
.