3pter-p25.3CNV Type: Duplication
Largest CNV size: 10000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Among the 40 genes that reside within the duplication detected in this loci are several genes with potential ASD relevance, including CNTN4, CNTN6, SUMF1, and GRM7. Deletions in this region are frequently associated with 3p deletion syndrome.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
10000000
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bremer_11_ASD_discovery_cases-case14
6
F
ASD
Syndromic ASD, familial case
MR (IQ<70)
18324
10051992
10033669
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bremer_11_ASD_discovery_cases-case14
MLPA, FISH
Unknown (not maternal)
NA
NA
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,TRNT1,CRBN,SUMF1,GRM7,SETD5,LMCD1-AS1
Controls
No Control Data Available
No Animal Model Data Available