GOLGA6L1 (golgin A6 family like 1) - Rat Genome Database

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Gene: GOLGA6L1 (golgin A6 family like 1) Homo sapiens
Analyze
Symbol: GOLGA6L1
Name: golgin A6 family like 1
RGD ID: 3517752
HGNC Page HGNC:37444
Description: ASSOCIATED WITH Angelman syndrome; Autism; autism spectrum disorder; INTERACTS WITH aflatoxin B1; cadmium atom; sodium arsenite
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ36131; FLJ40198; golgi autoantigen, golgin subfamily a, 6-like 1; golgi autoantigen, golgin subfamily a-like; golgin A6 family-like 1; Golgin subfamily A member 6-like protein 1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381523,127,066 - 23,136,822 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1523,127,066 - 23,136,822 (-)EnsemblGRCh38hg38GRCh38
GRCh371522,736,246 - 22,746,002 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361520,287,610 - 20,296,164 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map15q11.2NCBI
HuRef151,041,836 - 1,051,581 (+)NCBIHuRef
CHM1_11522,685,541 - 22,695,279 (+)NCBICHM1_1
T2T-CHM13v2.01520,810,829 - 20,820,625 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:23858473   PMID:34373451  


Genomics

Variants

.
Variants in GOLGA6L1
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000050332] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1 copy number loss See cases [RCV000050507] Chr15:22572809..23174546 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22736246-23265381)x1 copy number loss not provided [RCV002292909] Chr15:22736246..23265381 [GRCh37]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.22698177_(23120963_23380983)del deletion Chromosome 15q11.2 deletion syndrome [RCV003221323] Chr15:22698177..23120963 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22698519-22748691)x3 copy number gain See cases [RCV000142974] Chr15:22698519..22748691 [GRCh37]
Chr15:20249883..20300055 [NCBI36]
Chr15:15q11.2		 likely benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000148278] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22698522-23198655)x1 copy number loss See cases [RCV000240240] Chr15:22698522..23198655 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 copy number gain See cases [RCV000240207] Chr15:20848460..27662530 [GRCh37]
Chr15:15q11.2-12		 pathogenic
GRCh37/hg19 15q11.2(chr15:22698522-23059487)x1 copy number loss See cases [RCV000240208] Chr15:22698522..23059487 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22509195-23085096)x3 copy number gain See cases [RCV000051310] Chr15:22509195..23085096 [GRCh37]
Chr15:20010559..20636537 [NCBI36]
Chr15:15q11.2		 uncertain significance
NC_000015.9:g.(?_22410242)_(23222284_?)del deletion Autism spectrum disorder [RCV000208735] Chr15:22410242..23222284 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225383] Chr15:22528723..23300172 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000225468] Chr15:22646349..23140114 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225486] Chr15:22528723..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225663] Chr15:20306549..26208861 [GRCh37]
Chr15:15q11.1-12		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22427966-23226254)x1 copy number loss See cases [RCV000239433] Chr15:22427966..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1 copy number loss See cases [RCV000240598] Chr15:20848460..23191062 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:20733395-23487423)x3 copy number gain See cases [RCV000449296] Chr15:20733395..23487423 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22698522-23217455)x1 copy number loss See cases [RCV000449478] Chr15:22698522..23217455 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22665220-23147419) copy number loss Abnormal esophagus morphology [RCV000416676] Chr15:22665220..23147419 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15p13-q11.2(chr15:2770421-23082442)x1 copy number loss See cases [RCV000510203] Chr15:2770421..23082442 [GRCh37]
Chr15:15p13-q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22503621-23091180) copy number loss Global developmental delay [RCV000626502] Chr15:22503621..23091180 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:21903815-23226254)x3 copy number gain not provided [RCV000738645] Chr15:21903815..23226254 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:21903815-23226254)x1 copy number loss not provided [RCV000738646] Chr15:21903815..23226254 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_22444190)_(23226874_?)del deletion Autism [RCV000754148] Chr15:22444190..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22570470)_(23226874_?)del deletion Autism [RCV000754149] Chr15:22570470..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22673143)_(23226874_?)del deletion Autism [RCV000754150] Chr15:22673143..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
NC_000015.10:g.(?_22681827)_(23226874_?)del deletion Schizophrenia [RCV000754152] Chr15:22681827..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-11.2(chr15:20016811-23567465)x3 copy number gain not provided [RCV000751154] Chr15:20016811..23567465 [GRCh37]
Chr15:15q11.1-11.2		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22739723-23259294)x3 copy number gain not provided [RCV003312314] Chr15:22739723..23259294 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22652330-23272733)x1 copy number loss See cases [RCV001007419] Chr15:22652330..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1 copy number loss See cases [RCV001007406] Chr15:21903815..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1 copy number loss See cases [RCV001195070] Chr15:22299434..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22652330-23226254)x1 copy number loss See cases [RCV001194519] Chr15:22652330..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22695842-23300942)x1 copy number loss not provided [RCV001270654] Chr15:22695842..23300942 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22646799-23301267)x1 copy number loss not provided [RCV001270653] Chr15:22646799..23301267 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele deletion Intellectual disability [RCV001293371] Chr15:20612840..23272733 [GRCh37]
Chr15:15q11.1-11.2		 pathogenic
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV001801215] Chr15:22743127..23246000 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200) copy number gain Cerebral palsy [RCV001796580] Chr15:22722801..26749200 [GRCh37]
Chr15:15q11.2-12		 risk factor
GRCh37/hg19 15q11.2(chr15:22744149-23407579)x3 copy number gain Chromosome 15q11.2 deletion syndrome [RCV001801191] Chr15:22744149..23407579 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_001001413.3(GOLGA6L1):c.1534C>T (p.Arg512Trp) single nucleotide variant Inborn genetic diseases [RCV002817439] Chr15:23129919 [GRCh38]
Chr15:22743149 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.1555T>A (p.Trp519Arg) single nucleotide variant Inborn genetic diseases [RCV002974585] Chr15:23129898 [GRCh38]
Chr15:22743170 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.1469T>A (p.Ile490Lys) single nucleotide variant Inborn genetic diseases [RCV002951742] Chr15:23129984 [GRCh38]
Chr15:22743084 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.1558A>G (p.Arg520Gly) single nucleotide variant Inborn genetic diseases [RCV002980062] Chr15:23129895 [GRCh38]
Chr15:22743173 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.973G>A (p.Glu325Lys) single nucleotide variant Inborn genetic diseases [RCV002986665] Chr15:23130480 [GRCh38]
Chr15:22742588 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.1516G>A (p.Asp506Asn) single nucleotide variant Inborn genetic diseases [RCV002665687] Chr15:23129937 [GRCh38]
Chr15:22743131 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.1298G>A (p.Arg433Gln) single nucleotide variant Inborn genetic diseases [RCV002807855] Chr15:23130155 [GRCh38]
Chr15:22742913 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001001413.3(GOLGA6L1):c.1867T>C (p.Cys623Arg) single nucleotide variant Inborn genetic diseases [RCV002935130] Chr15:23129586 [GRCh38]
Chr15:22743482 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1 copy number loss not provided [RCV003222837] Chr15:22070540..23262343 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV003329532] Chr15:22744149..23246340 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 copy number loss Angelman syndrome [RCV003327724] Chr15:20966971..25963714 [GRCh38]
Chr15:15q11.2-12		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_001001413.3(GOLGA6L1):c.1216C>T (p.Arg406Cys) single nucleotide variant not provided [RCV003426449] Chr15:23130237 [GRCh38]
Chr15:22742831 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699) copy number gain 15q11q13 microduplication syndrome [RCV003985067] Chr15:22612582..29993699 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4 copy number gain 15q11q13 microduplication syndrome [RCV003985068] Chr15:22612582..28435882 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1433
Count of miRNA genes:531
Interacting mature miRNAs:567
Transcripts:ENST00000316397, ENST00000560659
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D3S3142  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 22
Low 1 3 1 343 1
Below cutoff 159 216 156 44 108 20 285 110 881 9 103 176 24 111 176 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000614055   ⟹   ENSP00000478478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,127,066 - 23,136,822 (-)Ensembl
RefSeq Acc Id: NM_001001413   ⟹   NP_001001413
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381523,127,066 - 23,136,822 (-)NCBI
GRCh371522,736,246 - 22,746,002 (+)RGD
Build 361520,287,610 - 20,296,164 (+)NCBI Archive
HuRef151,041,836 - 1,051,581 (+)ENTREZGENE
CHM1_11522,685,541 - 22,695,279 (+)NCBI
T2T-CHM13v2.01520,810,829 - 20,820,625 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054377743   ⟹   XP_054233718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,812,034 - 20,820,550 (-)NCBI
RefSeq Acc Id: XM_054377744   ⟹   XP_054233719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,812,034 - 20,820,550 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001001413 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233718 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233719 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI27817 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000478478
  ENSP00000478478.1
  ENSP00000482864.1
  ENSP00000483916.1
GenBank Protein Q8N7Z2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001001413   ⟸   NM_001001413
- UniProtKB: Q8N7Z2 (UniProtKB/Swiss-Prot),   A0A087WU96 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000478478   ⟸   ENST00000614055
RefSeq Acc Id: XP_054233719   ⟸   XM_054377744
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233718   ⟸   XM_054377743
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N7Z2-F1-model_v2 AlphaFold Q8N7Z2 1-668 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37444 AgrOrtholog
COSMIC GOLGA6L1 COSMIC
Ensembl Genes ENSG00000273976 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000275009 UniProtKB/Swiss-Prot
  ENSG00000278247 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000611085.2 UniProtKB/Swiss-Prot
  ENST00000614055 ENTREZGENE
  ENST00000614055.2 UniProtKB/Swiss-Prot
  ENST00000616813.2 UniProtKB/Swiss-Prot
GTEx ENSG00000273976 GTEx
  ENSG00000275009 GTEx
  ENSG00000278247 GTEx
HGNC ID HGNC:37444 ENTREZGENE
Human Proteome Map GOLGA6L1 Human Proteome Map
InterPro GOLGA6L UniProtKB/Swiss-Prot
KEGG Report hsa:283767 UniProtKB/Swiss-Prot
NCBI Gene 283767 ENTREZGENE
PANTHER GOLGIN SUBFAMILY A MEMBER 6-LIKE PROTEIN 1-RELATED UniProtKB/Swiss-Prot
  PTHR23143 UniProtKB/Swiss-Prot
PharmGKB PA165478683 PharmGKB
UniProt A0A087WU96 ENTREZGENE
  GG6L1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A087WU96 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 GOLGA6L1  golgin A6 family like 1    golgin A6 family-like 1  Symbol and/or name change 5135510 APPROVED