AC005772.1 (uncharacterized LOC101928475) - Rat Genome Database

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Gene: AC005772.1 (uncharacterized LOC101928475) Homo sapiens
Analyze
Symbol: AC005772.1
Name: uncharacterized LOC101928475
RGD ID: 16555223
Description: ASSOCIATED WITH Autism; autistic disorder; Charcot-Marie-Tooth disease type 3
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC101928475
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381715,051,355 - 15,052,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1715,014,805 - 15,052,276 (+)EnsemblGRCh38hg38GRCh38
GRCh371714,954,672 - 14,955,593 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17p12NCBI
HuRef1714,812,212 - 14,849,547 (+)NCBIHuRef
CHM1_11714,926,970 - 14,964,439 (+)NCBICHM1_1
T2T-CHM13v2.01714,957,375 - 14,958,296 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:12477932  


Genomics

Variants

.
Variants in AC005772.1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del deletion Autosomal recessive Dejerine-Sottas syndrome [RCV000008944]|Hereditary liability to pressure palsies [RCV000008942]|Polyneuropathy, inflammatory demyelinating [RCV000008943] Chr17:14194724..15567585 [GRCh38]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14126296-15659587)x3 copy number gain See cases [RCV000051843] Chr17:14126296..15659587 [GRCh38]
Chr17:14029613..15562901 [GRCh37]
Chr17:13970338..15503626 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14186983-15578926)x3 copy number gain See cases [RCV000051845] Chr17:14186983..15578926 [GRCh38]
Chr17:14090300..15482240 [GRCh37]
Chr17:14031025..15422965 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14186983-15563870)x3 copy number gain See cases [RCV000051848] Chr17:14186983..15563870 [GRCh38]
Chr17:14090300..15467184 [GRCh37]
Chr17:14031025..15407909 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 copy number gain See cases [RCV000052476] Chr17:10892259..17964282 [GRCh38]
Chr17:10795576..17867596 [GRCh37]
Chr17:10736301..17808321 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12(chr17:14208255-15538893)x3 copy number gain See cases [RCV000054325] Chr17:14208255..15538893 [GRCh38]
Chr17:14111572..15442207 [GRCh37]
Chr17:14052297..15382932 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208255-15538893)x1 copy number loss See cases [RCV000054326] Chr17:14208255..15538893 [GRCh38]
Chr17:14111572..15442207 [GRCh37]
Chr17:14052297..15382932 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538752)x3 copy number gain See cases [RCV000050791] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15538752)x1 copy number loss See cases [RCV000050794] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15588434)x1 copy number loss See cases [RCV000136830] Chr17:14208455..15588434 [GRCh38]
Chr17:14111772..15491748 [GRCh37]
Chr17:14052497..15432473 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14671118-15952996)x1 copy number loss See cases [RCV000137782] Chr17:14671118..15952996 [GRCh38]
Chr17:14574435..15856310 [GRCh37]
Chr17:14515160..15797035 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14186983-15570276)x3 copy number gain See cases [RCV000141380] Chr17:14186983..15570276 [GRCh38]
Chr17:14090300..15473590 [GRCh37]
Chr17:14031025..15414315 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581544)x3 copy number gain See cases [RCV000141701] Chr17:14184616..15581544 [GRCh38]
Chr17:14087933..15484858 [GRCh37]
Chr17:14028658..15425583 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581544)x1 copy number loss See cases [RCV000141702] Chr17:14184616..15581544 [GRCh38]
Chr17:14087933..15484858 [GRCh37]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15588218)x1 copy number loss See cases [RCV000141736] Chr17:14184616..15588218 [GRCh38]
Chr17:14087933..15491532 [GRCh37]
Chr17:14028658..15432257 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15579558)x1 copy number loss See cases [RCV000138441] Chr17:14208455..15579558 [GRCh38]
Chr17:14111772..15482872 [GRCh37]
Chr17:14052497..15423597 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581044)x3 copy number gain See cases [RCV000140927] Chr17:14184616..15581044 [GRCh38]
Chr17:14087933..15484358 [GRCh37]
Chr17:14028658..15425083 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538755)x3 copy number gain See cases [RCV000137634] Chr17:14208455..15538755 [GRCh38]
Chr17:14111772..15442069 [GRCh37]
Chr17:14052497..15382794 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538755)x1 copy number loss See cases [RCV000137635] Chr17:14208455..15538755 [GRCh38]
Chr17:14111772..15442069 [GRCh37]
Chr17:14052497..15382794 [NCBI36]
Chr17:17p12		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14179737-15664355)x3 copy number gain See cases [RCV000142324] Chr17:14179737..15664355 [GRCh38]
Chr17:14083054..15567669 [GRCh37]
Chr17:14023779..15508394 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184470-15586786)x1 copy number loss See cases [RCV000143299] Chr17:14184470..15586786 [GRCh38]
Chr17:14087787..15490100 [GRCh37]
Chr17:14028512..15430825 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15597331)x3 copy number gain See cases [RCV000143303] Chr17:14184616..15597331 [GRCh38]
Chr17:14087933..15500645 [GRCh37]
Chr17:14028658..15441370 [NCBI36]
Chr17:17p12		 pathogenic|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15538752)x3 copy number gain See cases [RCV000148118] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15579558)x3 copy number gain See cases [RCV000142839] Chr17:14208455..15579558 [GRCh38]
Chr17:14111772..15482872 [GRCh37]
Chr17:14052497..15423597 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14179737-15571773)x1 copy number loss See cases [RCV000142266] Chr17:14179737..15571773 [GRCh38]
Chr17:14083054..15475087 [GRCh37]
Chr17:14023779..15415812 [NCBI36]
Chr17:17p12		 pathogenic
NC_000017.11:g.(?_14183541)_(15573247_?)del deletion Autism [RCV000754200] Chr17:14183541..15573247 [GRCh38]
Chr17:17p12		 likely pathogenic
NC_000017.11:g.(?_14178908)_(15518547_?)del deletion Schizophrenia [RCV000754199] Chr17:14178908..15518547 [GRCh38]
Chr17:17p12		 likely pathogenic
Single allele duplication not specified [RCV002286369] Chr17:11915997..17892664 [GRCh38]
Chr17:17p12-11.2		 pathogenic

Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
16 85 96 37 167 26 50 13 42 8 123 174 124 1 75 24 396 36 6

Sequence


Ensembl Acc Id: ENST00000446671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,014,751 - 15,052,276 (+)Ensembl
RefSeq Acc Id: NR_135638
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,051,355 - 15,052,276 (+)NCBI
T2T-CHM13v2.01714,957,375 - 14,958,296 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AC005772.1 COSMIC
Ensembl Genes ENSG00000232058 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000446671 ENTREZGENE
GTEx ENSG00000232058 GTEx
Human Proteome Map AC005772.1 Human Proteome Map
NCBI Gene LOC101928475 ENTREZGENE
RNAcentral URS00000B2D15 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-08-20 AC005772.1  uncharacterized LOC101928475  AC005772.1  novel transcript  Symbol and/or name change 19259462 PROVISIONAL
2020-06-25 AC005772.1  novel transcript  LOC101928475  uncharacterized LOC101928475  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC101928475  uncharacterized LOC101928475  AC005772.1  novel transcript  Symbol and/or name change 5135510 APPROVED
2020-02-07 AC005772.1  novel transcript  AC005772.1  uncharacterized LOC101928475  Symbol and/or name change 19259462 PROVISIONAL