ACBD6 (acyl-CoA binding domain containing 6) - Rat Genome Database

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Gene: ACBD6 (acyl-CoA binding domain containing 6) Homo sapiens
Analyze
Symbol: ACBD6
Name: acyl-CoA binding domain containing 6
RGD ID: 1312817
HGNC Page HGNC:23339
Description: Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acyl-CoA-binding domain-containing protein 6; acyl-Coenzyme A binding domain containing 6; MGC2404; NEDPM
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381180,269,653 - 180,502,577 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1180,269,653 - 180,502,954 (-)EnsemblGRCh38hg38GRCh38
GRCh371180,257,365 - 180,471,712 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361178,523,988 - 178,738,102 (-)NCBINCBI36Build 36hg18NCBI36
Build 341176,989,022 - 177,203,136NCBI
Celera1153,364,592 - 153,578,887 (-)NCBICelera
Cytogenetic Map1q25.2-q25.3NCBI
HuRef1151,488,279 - 151,702,640 (-)NCBIHuRef
CHM1_11181,680,679 - 181,893,779 (-)NCBICHM1_1
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (TAS)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of the anterior commissure  (IAGP)
Aggressive behavior  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain atrophy  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cirrhosis  (IAGP)
Cleft palate  (IAGP)
Coarse facial features  (IAGP)
Colpocephaly  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes mellitus  (IAGP)
Dystonia  (IAGP)
Edema  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Focal-onset seizure  (IAGP)
Frequent temper tantrums  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
High myopia  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hypermetropia  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Infantile spasms  (IAGP)
Inferior cerebellar vermis hypoplasia  (IAGP)
Intellectual disability  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Lower limb spasticity  (IAGP)
Mandibular prognathia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Obstructive sleep apnea  (IAGP)
Orthostatic hypotension  (IAGP)
Pancytopenia  (IAGP)
Parathyroid carcinoma  (IAGP)
Parkinsonism  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Polyphagia  (IAGP)
Postural instability  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short philtrum  (IAGP)
Sleep abnormality  (IAGP)
Small hand  (IAGP)
Spasticity  (IAGP)
Stooped posture  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thickened calvaria  (IAGP)
Thin upper lip vermilion  (IAGP)
Tics  (IAGP)
Tremor  (IAGP)
Upgaze palsy  (IAGP)
Upper limb spasticity  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889549   PMID:15489334   PMID:16710414   PMID:18029348   PMID:18268358   PMID:20098747   PMID:20379614   PMID:21832049   PMID:21873635   PMID:25277244   PMID:26290611   PMID:26621918  
PMID:29642183   PMID:30642881   PMID:32108178   PMID:32296183   PMID:33961781   PMID:34349018   PMID:34917906   PMID:35831314   PMID:36551154   PMID:37951597  


Genomics

Comparative Map Data
ACBD6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381180,269,653 - 180,502,577 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1180,269,653 - 180,502,954 (-)EnsemblGRCh38hg38GRCh38
GRCh371180,257,365 - 180,471,712 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361178,523,988 - 178,738,102 (-)NCBINCBI36Build 36hg18NCBI36
Build 341176,989,022 - 177,203,136NCBI
Celera1153,364,592 - 153,578,887 (-)NCBICelera
Cytogenetic Map1q25.2-q25.3NCBI
HuRef1151,488,279 - 151,702,640 (-)NCBIHuRef
CHM1_11181,680,679 - 181,893,779 (-)NCBICHM1_1
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBIT2T-CHM13v2.0
Acbd6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391155,433,845 - 155,564,120 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1155,433,866 - 155,567,076 (+)EnsemblGRCm39 Ensembl
GRCm381155,558,099 - 155,687,474 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1155,558,120 - 155,691,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv371157,405,250 - 157,534,363 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361157,320,340 - 157,449,450 (+)NCBIMGSCv36mm8
Celera1157,991,361 - 158,120,462 (+)NCBICelera
Cytogenetic Map1G3NCBI
cM Map166.92NCBI
Acbd6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81370,277,036 - 70,412,598 (+)NCBIGRCr8
mRatBN7.21367,726,786 - 67,863,392 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1367,726,786 - 67,862,311 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1370,306,819 - 70,441,982 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01371,620,635 - 71,758,159 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01368,882,106 - 69,019,631 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01373,196,504 - 73,334,077 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1373,196,571 - 73,334,077 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01378,130,712 - 78,265,045 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41370,519,376 - 70,654,968 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11370,533,455 - 70,669,047 (+)NCBI
Celera1367,598,996 - 67,734,266 (+)NCBICelera
Cytogenetic Map13q21NCBI
Acbd6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540619,481,640 - 19,658,806 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540619,481,640 - 19,658,807 (-)NCBIChiLan1.0ChiLan1.0
ACBD6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2169,256,784 - 69,473,736 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1168,915,007 - 69,137,254 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01155,774,799 - 155,988,767 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11159,448,023 - 159,661,741 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1159,448,023 - 159,661,741 (-)Ensemblpanpan1.1panPan2
ACBD6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1713,836,665 - 14,043,996 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl713,836,667 - 14,044,156 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha713,415,194 - 13,622,298 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0713,564,195 - 13,771,838 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl713,564,204 - 13,771,514 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1713,474,761 - 13,682,238 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0713,581,204 - 13,788,870 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0713,705,277 - 13,912,918 (-)NCBIUU_Cfam_GSD_1.0
Acbd6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934490,900,447 - 91,050,868 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364818,746,863 - 8,898,657 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364818,747,203 - 8,897,617 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACBD6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9121,913,053 - 122,115,783 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19121,913,050 - 122,116,031 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29133,728,813 - 133,933,437 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACBD6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12548,884,818 - 49,089,557 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2548,885,434 - 49,090,615 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605550,276,838 - 50,482,373 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acbd6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624771569,277 - 797,718 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624771572,664 - 797,826 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACBD6
122 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_033343.4(LHX4):c.837C>T (p.Asp279=) single nucleotide variant Combined Pituitary Hormone Deficiency, Dominant [RCV000362800]|not provided [RCV000926189] Chr1:180274243 [GRCh38]
Chr1:180243378 [GRCh37]
Chr1:1q25.2
likely benign|uncertain significance
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007936] Chr1:180271856 [GRCh38]
Chr1:180240991 [GRCh37]
Chr1:1q25.2
pathogenic
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007938] Chr1:180271497 [GRCh38]
Chr1:180240632 [GRCh37]
Chr1:1q25.2
pathogenic
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007939] Chr1:180274568 [GRCh38]
Chr1:180243703 [GRCh37]
Chr1:1q25.2
pathogenic
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q25.2-25.3(chr1:180210306-180309409)x3 copy number gain See cases [RCV000134930] Chr1:180210306..180309409 [GRCh38]
Chr1:180179441..180278544 [GRCh37]
Chr1:178446064..178545167 [NCBI36]
Chr1:1q25.2-25.3
likely benign
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
NM_033343.4(LHX4):c.*17C>A single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000263250]|not provided [RCV004713543] Chr1:180274596 [GRCh38]
Chr1:180243731 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.*91C>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000259778] Chr1:180274670 [GRCh38]
Chr1:180243805 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) single nucleotide variant Inborn genetic diseases [RCV004984785]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000404698] Chr1:180272003 [GRCh38]
Chr1:180241138 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.452-5T>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000301831]|not provided [RCV001610798] Chr1:180271375 [GRCh38]
Chr1:180240510 [GRCh37]
Chr1:1q25.2
benign|likely benign
GRCh37/hg19 1q25.2(chr1:180216801-180298307)x3 copy number gain See cases [RCV000240107] Chr1:180216801..180298307 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.924T>C (p.Tyr308=) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000277583]|not provided [RCV000889282] Chr1:180274330 [GRCh38]
Chr1:180243465 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.774C>T (p.Phe258=) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000365899] Chr1:180272002 [GRCh38]
Chr1:180241137 [GRCh37]
Chr1:1q25.2
likely benign|uncertain significance
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 copy number loss See cases [RCV000239775] Chr1:172742952..181814496 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_033343.4(LHX4):c.998C>T (p.Thr333Met) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000368558] Chr1:180274404 [GRCh38]
Chr1:180243539 [GRCh37]
Chr1:1q25.2
uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
NM_033343.4(LHX4):c.452-2A>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000169664] Chr1:180271378 [GRCh38]
Chr1:180240513 [GRCh37]
Chr1:1q25.2
pathogenic
NM_033343.4(LHX4):c.*130C>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000284392] Chr1:180274709 [GRCh38]
Chr1:180243844 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000612505]|not provided [RCV002058380]|not specified [RCV000242291] Chr1:180274389 [GRCh38]
Chr1:180243524 [GRCh37]
Chr1:1q25.2
benign
NM_033343.4(LHX4):c.778+14G>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000308148]|not provided [RCV001668596]|not specified [RCV000249713] Chr1:180272020 [GRCh38]
Chr1:180241155 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.*119T>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000378688] Chr1:180274698 [GRCh38]
Chr1:180243833 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.*26C>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000318378]|not provided [RCV004710736] Chr1:180274605 [GRCh38]
Chr1:180243740 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.*445G>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000289883] Chr1:180275024 [GRCh38]
Chr1:180244159 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.*286G>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000339394] Chr1:180274865 [GRCh38]
Chr1:180244000 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.*289G>A single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000384254] Chr1:180274868 [GRCh38]
Chr1:180244003 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.*97T>G single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000324066] Chr1:180274676 [GRCh38]
Chr1:180243811 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.*28C>A single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000373127] Chr1:180274607 [GRCh38]
Chr1:180243742 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.606+4A>G single nucleotide variant not provided [RCV000579292] Chr1:180271538 [GRCh38]
Chr1:180240673 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.784C>T (p.Gln262Ter) single nucleotide variant not provided [RCV000521681] Chr1:180274190 [GRCh38]
Chr1:180243325 [GRCh37]
Chr1:1q25.2
likely pathogenic
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) single nucleotide variant Inborn genetic diseases [RCV004024647]|Pituitary hormone deficiency, combined, 1 [RCV000582035]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003129930] Chr1:180271968 [GRCh38]
Chr1:180241103 [GRCh37]
Chr1:1q25.2
uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_033343.4(LHX4):c.1066G>A (p.Ala356Thr) single nucleotide variant not provided [RCV000429837] Chr1:180274472 [GRCh38]
Chr1:180243607 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1110C>G (p.Gly370=) single nucleotide variant not specified [RCV000433246] Chr1:180274516 [GRCh38]
Chr1:180243651 [GRCh37]
Chr1:1q25.2
likely benign
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 copy number loss See cases [RCV000448646] Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264) copy number loss Abnormal esophagus morphology [RCV000416849] Chr1:178806664..181082264 [GRCh37]
Chr1:1q25.2-25.3
likely benign
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000509129]|not provided [RCV002524942] Chr1:180274458 [GRCh38]
Chr1:180243593 [GRCh37]
Chr1:1q25.2
uncertain significance|not provided
GRCh37/hg19 1q25.2-25.3(chr1:180171253-180889590)x3 copy number gain See cases [RCV000511110] Chr1:180171253..180889590 [GRCh37]
Chr1:1q25.2-25.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_033343.4(LHX4):c.607-1G>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007935] Chr1:180271834 [GRCh38]
Chr1:180240969 [GRCh37]
Chr1:1q25.2
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
NM_033343.4(LHX4):c.1053G>A (p.Thr351=) single nucleotide variant not provided [RCV000914430] Chr1:180274459 [GRCh38]
Chr1:180243594 [GRCh37]
Chr1:1q25.2
likely benign
NM_032360.4(ACBD6):c.574-2A>G single nucleotide variant Neurodevelopmental disorder with progressive movement abnormalities [RCV004577538]|not provided [RCV000994201] Chr1:180397607 [GRCh38]
Chr1:180366742 [GRCh37]
Chr1:1q25.3
pathogenic|uncertain significance
NM_033343.4(LHX4):c.849A>C (p.Gly283=) single nucleotide variant LHX4-related disorder [RCV003928695]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001096369]|not provided [RCV002067738] Chr1:180274255 [GRCh38]
Chr1:180243390 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.1061C>T (p.Ala354Val) single nucleotide variant Inborn genetic diseases [RCV003268965] Chr1:180274467 [GRCh38]
Chr1:180243602 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986467] Chr1:180271836 [GRCh38]
Chr1:180240971 [GRCh37]
Chr1:1q25.2
likely benign
NM_032360.4(ACBD6):c.744T>G (p.Gly248=) single nucleotide variant not provided [RCV000971848] Chr1:180288468 [GRCh38]
Chr1:180257603 [GRCh37]
Chr1:1q25.2
benign
NM_033343.4(LHX4):c.970G>A (p.Ala324Thr) single nucleotide variant not provided [RCV000920872] Chr1:180274376 [GRCh38]
Chr1:180243511 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.690C>T (p.Ser230=) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002495412]|not provided [RCV000894416] Chr1:180271918 [GRCh38]
Chr1:180241053 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_032360.4(ACBD6):c.96T>C (p.His32=) single nucleotide variant not provided [RCV000900464] Chr1:180502171 [GRCh38]
Chr1:180471306 [GRCh37]
Chr1:1q25.3
benign
NM_033343.4(LHX4):c.942A>C (p.Pro314=) single nucleotide variant not provided [RCV000925886] Chr1:180274348 [GRCh38]
Chr1:180243483 [GRCh37]
Chr1:1q25.2
likely benign
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098111]|not provided [RCV002554918]|not specified [RCV002249686] Chr1:180274571 [GRCh38]
Chr1:180243706 [GRCh37]
Chr1:1q25.2
benign
NM_033343.4(LHX4):c.1017C>G (p.Gly339=) single nucleotide variant not provided [RCV000942943] Chr1:180274423 [GRCh38]
Chr1:180243558 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.*221G>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099895] Chr1:180274800 [GRCh38]
Chr1:180243935 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986468]|not provided [RCV002550597] Chr1:180271932 [GRCh38]
Chr1:180241067 [GRCh37]
Chr1:1q25.2
likely benign|uncertain significance
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) single nucleotide variant Inborn genetic diseases [RCV002549668]|LHX4-related disorder [RCV003411927]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986469] Chr1:180272004 [GRCh38]
Chr1:180241139 [GRCh37]
Chr1:1q25.2
likely benign|uncertain significance
NM_033343.4(LHX4):c.969C>T (p.His323=) single nucleotide variant not provided [RCV000922747] Chr1:180274375 [GRCh38]
Chr1:180243510 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.846C>A (p.Gly282=) single nucleotide variant not provided [RCV000927068] Chr1:180274252 [GRCh38]
Chr1:180243387 [GRCh37]
Chr1:1q25.2
likely benign
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001253228] Chr1:180271530 [GRCh38]
Chr1:180240665 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.*8T>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098112] Chr1:180274587 [GRCh38]
Chr1:180243722 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.*280T>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101900] Chr1:180274859 [GRCh38]
Chr1:180243994 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.*154A>G single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099894] Chr1:180274733 [GRCh38]
Chr1:180243868 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001591667] Chr1:180271392 [GRCh38]
Chr1:180240527 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.456C>G (p.Asp152Glu) single nucleotide variant not provided [RCV001596889] Chr1:180271384 [GRCh38]
Chr1:180240519 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.486C>A (p.Thr162=) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001096368] Chr1:180271414 [GRCh38]
Chr1:180240549 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.*17C>T single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098113] Chr1:180274596 [GRCh38]
Chr1:180243731 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.*460G>C single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101901] Chr1:180275039 [GRCh38]
Chr1:180244174 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098109] Chr1:180274413 [GRCh38]
Chr1:180243548 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098110]|not provided [RCV002069655] Chr1:180274566 [GRCh38]
Chr1:180243701 [GRCh37]
Chr1:1q25.2
benign|likely benign
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_033343.4(LHX4):c.724_726del (p.Lys242del) deletion not provided [RCV001357984]|not specified [RCV002246335] Chr1:180271950..180271952 [GRCh38]
Chr1:180241085..180241087 [GRCh37]
Chr1:1q25.2
benign|likely benign|uncertain significance
NM_033343.4(LHX4):c.606+83C>T single nucleotide variant not provided [RCV001675494] Chr1:180271617 [GRCh38]
Chr1:180240752 [GRCh37]
Chr1:1q25.2
benign
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) single nucleotide variant Inborn genetic diseases [RCV003101316]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002244256] Chr1:180274428 [GRCh38]
Chr1:180243563 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.656C>T (p.Ala219Val) single nucleotide variant not specified [RCV004783498] Chr1:180271884 [GRCh38]
Chr1:180241019 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.652G>A (p.Asp218Asn) single nucleotide variant not provided [RCV001763298] Chr1:180271880 [GRCh38]
Chr1:180241015 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1071_1073del (p.Gly358del) deletion not provided [RCV001774347] Chr1:180274475..180274477 [GRCh38]
Chr1:180243610..180243612 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.360dup (p.Leu121fs) duplication Intellectual disability [RCV001810074]|Neurodevelopmental disorder with progressive movement abnormalities [RCV004577550] Chr1:180492292..180492293 [GRCh38]
Chr1:180461427..180461428 [GRCh37]
Chr1:1q25.3
pathogenic
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) copy number loss not specified [RCV002053713] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NC_000001.10:g.(?_179520308)_(183559464_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3
uncertain significance
NM_033343.4(LHX4):c.879C>T (p.Asp293=) single nucleotide variant LHX4-related disorder [RCV003958759]|not provided [RCV002124928]|not specified [RCV004782881] Chr1:180274285 [GRCh38]
Chr1:180243420 [GRCh37]
Chr1:1q25.2
benign|likely benign
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002251064] Chr1:180271849 [GRCh38]
Chr1:180240984 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002283974] Chr1:180271497 [GRCh38]
Chr1:180240632 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002291151] Chr1:180274228 [GRCh38]
Chr1:180243363 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.624A>C (p.Arg208Ser) single nucleotide variant not provided [RCV003235941] Chr1:180271852 [GRCh38]
Chr1:180240987 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.727_732dup (p.Ser244_Ser245insGluSer) duplication not specified [RCV002282934] Chr1:180271954..180271955 [GRCh38]
Chr1:180241089..180241090 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1161T>G (p.His387Gln) single nucleotide variant Inborn genetic diseases [RCV003263361] Chr1:180274567 [GRCh38]
Chr1:180243702 [GRCh37]
Chr1:1q25.2
uncertain significance
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2
pathogenic
NM_033343.4(LHX4):c.1006A>G (p.Ser336Gly) single nucleotide variant not provided [RCV002306164] Chr1:180274412 [GRCh38]
Chr1:180243547 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.611A>G (p.His204Arg) single nucleotide variant Inborn genetic diseases [RCV002859760] Chr1:180397568 [GRCh38]
Chr1:180366703 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_032360.4(ACBD6):c.439A>G (p.Ser147Gly) single nucleotide variant Inborn genetic diseases [RCV002688352] Chr1:180430208 [GRCh38]
Chr1:180399343 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.836A>G (p.Asp279Gly) single nucleotide variant Inborn genetic diseases [RCV002797566] Chr1:180274242 [GRCh38]
Chr1:180243377 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.236A>G (p.Asn79Ser) single nucleotide variant Inborn genetic diseases [RCV002737554] Chr1:180495512 [GRCh38]
Chr1:180464647 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_032360.4(ACBD6):c.311A>C (p.Asp104Ala) single nucleotide variant Inborn genetic diseases [RCV003001298] Chr1:180492342 [GRCh38]
Chr1:180461477 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.1116C>T (p.Pro372=) single nucleotide variant not provided [RCV002979237] Chr1:180274522 [GRCh38]
Chr1:180243657 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.898C>A (p.Gln300Lys) single nucleotide variant not provided [RCV002933252] Chr1:180274304 [GRCh38]
Chr1:180243439 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.661C>T (p.Arg221Trp) single nucleotide variant not provided [RCV002667897] Chr1:180271889 [GRCh38]
Chr1:180241024 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.667C>T (p.Arg223Cys) single nucleotide variant Inborn genetic diseases [RCV002670136] Chr1:180271895 [GRCh38]
Chr1:180241030 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.119G>C (p.Ser40Thr) single nucleotide variant Inborn genetic diseases [RCV002934603] Chr1:180502148 [GRCh38]
Chr1:180471283 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.1158T>A (p.Asp386Glu) single nucleotide variant not provided [RCV002607893] Chr1:180274564 [GRCh38]
Chr1:180243699 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003131472] Chr1:180274476 [GRCh38]
Chr1:180243611 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.683A>G (p.Tyr228Cys) single nucleotide variant Inborn genetic diseases [RCV003183979] Chr1:180271911 [GRCh38]
Chr1:180241046 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.452A>C (p.His151Pro) single nucleotide variant Inborn genetic diseases [RCV003192113] Chr1:180430195 [GRCh38]
Chr1:180399330 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003134054] Chr1:180274493 [GRCh38]
Chr1:180243628 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.482G>A (p.Arg161Gln) single nucleotide variant not provided [RCV003329927] Chr1:180271410 [GRCh38]
Chr1:180240545 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.46G>C (p.Gly16Arg) single nucleotide variant Inborn genetic diseases [RCV003367158] Chr1:180502221 [GRCh38]
Chr1:180471356 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.805C>A (p.His269Asn) single nucleotide variant not provided [RCV003456677] Chr1:180274211 [GRCh38]
Chr1:180243346 [GRCh37]
Chr1:1q25.2
uncertain significance
GRCh37/hg19 1q25.2-25.3(chr1:180119141-180321486)x3 copy number gain not provided [RCV003484046] Chr1:180119141..180321486 [GRCh37]
Chr1:1q25.2-25.3
uncertain significance
NM_033343.4(LHX4):c.743A>T (p.Asp248Val) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003388236] Chr1:180271971 [GRCh38]
Chr1:180241106 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.857T>C (p.Met286Thr) single nucleotide variant Inborn genetic diseases [RCV004985369]|not provided [RCV003456678] Chr1:180274263 [GRCh38]
Chr1:180243398 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.846C>T (p.Gly282=) single nucleotide variant not provided [RCV003546160] Chr1:180274252 [GRCh38]
Chr1:180243387 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.691G>A (p.Val231Ile) single nucleotide variant not provided [RCV003824499] Chr1:180271919 [GRCh38]
Chr1:180241054 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.953C>T (p.Ser318Leu) single nucleotide variant Inborn genetic diseases [RCV004369183]|not provided [RCV003561513] Chr1:180274359 [GRCh38]
Chr1:180243494 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.847G>A (p.Gly283Arg) single nucleotide variant Inborn genetic diseases [RCV004636768]|not provided [RCV003554138] Chr1:180274253 [GRCh38]
Chr1:180243388 [GRCh37]
Chr1:1q25.2
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not specified [RCV003986506] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3
pathogenic
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1
pathogenic
NM_033343.4(LHX4):c.498C>T (p.Ala166=) single nucleotide variant LHX4-related disorder [RCV003948958]|not provided [RCV003722171] Chr1:180271426 [GRCh38]
Chr1:180240561 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.607-17T>C single nucleotide variant not provided [RCV003819296] Chr1:180271818 [GRCh38]
Chr1:180240953 [GRCh37]
Chr1:1q25.2
likely benign
NM_033343.4(LHX4):c.1154T>C (p.Met385Thr) single nucleotide variant Inborn genetic diseases [RCV004415029] Chr1:180274560 [GRCh38]
Chr1:180243695 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.737C>T (p.Ala246Val) single nucleotide variant not specified [RCV004526300] Chr1:180271965 [GRCh38]
Chr1:180241100 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.54G>A (p.Glu18=) single nucleotide variant ACBD6-related disorder [RCV003981700] Chr1:180502213 [GRCh38]
Chr1:180471348 [GRCh37]
Chr1:1q25.3
likely benign
NM_032360.4(ACBD6):c.456A>G (p.Glu152=) single nucleotide variant ACBD6-related disorder [RCV003976960] Chr1:180430191 [GRCh38]
Chr1:180399326 [GRCh37]
Chr1:1q25.3
likely benign
NM_032360.4(ACBD6):c.-10G>T single nucleotide variant ACBD6-related disorder [RCV003912117] Chr1:180502276 [GRCh38]
Chr1:180471411 [GRCh37]
Chr1:1q25.3
likely benign
NM_033343.4(LHX4):c.623G>A (p.Arg208Lys) single nucleotide variant Inborn genetic diseases [RCV004415032] Chr1:180271851 [GRCh38]
Chr1:180240986 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.828C>T (p.Asn276=) single nucleotide variant LHX4-related disorder [RCV003909597] Chr1:180274234 [GRCh38]
Chr1:180243369 [GRCh37]
Chr1:1q25.2
likely benign
NM_032360.4(ACBD6):c.223-6A>G single nucleotide variant ACBD6-related disorder [RCV003911538] Chr1:180495531 [GRCh38]
Chr1:180464666 [GRCh37]
Chr1:1q25.3
likely benign
NM_033343.4(LHX4):c.1026G>A (p.Ala342=) single nucleotide variant LHX4-related disorder [RCV003934117] Chr1:180274432 [GRCh38]
Chr1:180243567 [GRCh37]
Chr1:1q25.2
likely benign
NM_032360.4(ACBD6):c.663+7G>A single nucleotide variant ACBD6-related disorder [RCV003952314] Chr1:180397509 [GRCh38]
Chr1:180366644 [GRCh37]
Chr1:1q25.3
likely benign
NM_033343.4(LHX4):c.778+9G>A single nucleotide variant LHX4-related disorder [RCV003946998] Chr1:180272015 [GRCh38]
Chr1:180241150 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.448T>C (p.Tyr150His) single nucleotide variant Inborn genetic diseases [RCV004431915] Chr1:180430199 [GRCh38]
Chr1:180399334 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_032360.4(ACBD6):c.187G>T (p.Glu63Ter) single nucleotide variant Neurodevelopmental disorder with progressive movement abnormalities [RCV004577651] Chr1:180502080 [GRCh38]
Chr1:180471215 [GRCh37]
Chr1:1q25.3
pathogenic
NM_033343.4(LHX4):c.689G>A (p.Ser230Asn) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV004556022] Chr1:180271917 [GRCh38]
Chr1:180241052 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.484_488del (p.Asn161_Ile162insTer) deletion Neurodevelopmental disorder with progressive movement abnormalities [RCV004577650] Chr1:180413451..180413455 [GRCh38]
Chr1:180382586..180382590 [GRCh37]
Chr1:1q25.3
pathogenic
NM_032360.4(ACBD6):c.474del (p.Asp159fs) deletion Neurodevelopmental disorder with progressive movement abnormalities [RCV004577652] Chr1:180413465 [GRCh38]
Chr1:180382600 [GRCh37]
Chr1:1q25.3
pathogenic
NM_032360.4(ACBD6):c.82dup (p.Val28fs) duplication Neurodevelopmental disorder with progressive movement abnormalities [RCV004577649] Chr1:180502184..180502185 [GRCh38]
Chr1:180471319..180471320 [GRCh37]
Chr1:1q25.3
pathogenic
NM_033343.4(LHX4):c.694A>G (p.Lys232Glu) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV004566638] Chr1:180271922 [GRCh38]
Chr1:180241057 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.662A>C (p.Gln221Pro) single nucleotide variant Inborn genetic diseases [RCV004431922] Chr1:180397517 [GRCh38]
Chr1:180366652 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_032360.4(ACBD6):c.44G>T (p.Ser15Ile) single nucleotide variant Inborn genetic diseases [RCV004602160] Chr1:180502223 [GRCh38]
Chr1:180471358 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.(?_179520308)_(183559464_?)del deletion not provided [RCV004579068] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3
pathogenic
NM_033343.4(LHX4):c.1103G>T (p.Ser368Ile) single nucleotide variant Inborn genetic diseases [RCV004642467] Chr1:180274509 [GRCh38]
Chr1:180243644 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.688A>G (p.Ser230Gly) single nucleotide variant Inborn genetic diseases [RCV004642468] Chr1:180271916 [GRCh38]
Chr1:180241051 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.855A>C (p.Leu285Phe) single nucleotide variant Inborn genetic diseases [RCV004633970] Chr1:180274261 [GRCh38]
Chr1:180243396 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.379C>T (p.Pro127Ser) single nucleotide variant Inborn genetic diseases [RCV004607098] Chr1:180492274 [GRCh38]
Chr1:180461409 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.475C>T (p.Arg159Trp) single nucleotide variant not provided [RCV004593469] Chr1:180271403 [GRCh38]
Chr1:180240538 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1157A>G (p.Asp386Gly) single nucleotide variant Inborn genetic diseases [RCV004633971] Chr1:180274563 [GRCh38]
Chr1:180243698 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1112A>C (p.Tyr371Ser) single nucleotide variant Inborn genetic diseases [RCV004642466] Chr1:180274518 [GRCh38]
Chr1:180243653 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.703C>T (p.Arg235Trp) single nucleotide variant Inborn genetic diseases [RCV004642465] Chr1:180271931 [GRCh38]
Chr1:180241066 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.704G>C (p.Arg235Pro) single nucleotide variant Inborn genetic diseases [RCV004642469] Chr1:180271932 [GRCh38]
Chr1:180241067 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.701C>T (p.Ala234Val) single nucleotide variant Inborn genetic diseases [RCV004602152] Chr1:180288511 [GRCh38]
Chr1:180257646 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.63_64del (p.Asp23fs) deletion not provided [RCV004768973] Chr1:180502203..180502204 [GRCh38]
Chr1:180471338..180471339 [GRCh37]
Chr1:1q25.3
pathogenic
NC_000001.11:g.180271835_180271846del deletion not provided [RCV004777433] Chr1:180271832..180271843 [GRCh38]
Chr1:180240967..180240978 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_032360.4(ACBD6):c.522A>G (p.Ile174Met) single nucleotide variant Inborn genetic diseases [RCV004965022] Chr1:180413417 [GRCh38]
Chr1:180382552 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_032360.4(ACBD6):c.235A>G (p.Asn79Asp) single nucleotide variant Inborn genetic diseases [RCV004965023] Chr1:180495513 [GRCh38]
Chr1:180464648 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_033343.4(LHX4):c.983_999del (p.Asn328fs) deletion not provided [RCV004776014] Chr1:180274389..180274405 [GRCh38]
Chr1:180243524..180243540 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.973C>T (p.Pro325Ser) single nucleotide variant Inborn genetic diseases [RCV004986583] Chr1:180274379 [GRCh38]
Chr1:180243514 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1020C>G (p.Ile340Met) single nucleotide variant Inborn genetic diseases [RCV004986587] Chr1:180274426 [GRCh38]
Chr1:180243561 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.880G>A (p.Gly294Arg) single nucleotide variant Inborn genetic diseases [RCV004986584] Chr1:180274286 [GRCh38]
Chr1:180243421 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.601G>A (p.Val201Ile) single nucleotide variant Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV005008961] Chr1:180271529 [GRCh38]
Chr1:180240664 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.467G>A (p.Gly156Glu) single nucleotide variant Inborn genetic diseases [RCV004986585] Chr1:180271395 [GRCh38]
Chr1:180240530 [GRCh37]
Chr1:1q25.2
uncertain significance
NM_033343.4(LHX4):c.1127C>A (p.Thr376Asn) single nucleotide variant Inborn genetic diseases [RCV004986586] Chr1:180274533 [GRCh38]
Chr1:180243668 [GRCh37]
Chr1:1q25.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:347
Count of miRNA genes:303
Interacting mature miRNAs:321
Transcripts:ENST00000367595, ENST00000475338, ENST00000496993
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597321442GWAS1417516_HQRS duration QTL GWAS1417516 (human)2e-08QRS durationQRS duration (CMO:0000267)1180349886180349887Human
597319410GWAS1415484_HQRS duration QTL GWAS1415484 (human)1e-08QRS durationQRS duration (CMO:0000267)1180349886180349887Human
597353089GWAS1449163_Hbody height QTL GWAS1449163 (human)2e-12body height (VT:0001253)body height (CMO:0000106)1180444407180444408Human

Markers in Region
RH80540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371180,322,652 - 180,322,870UniSTSGRCh37
Build 361178,589,275 - 178,589,493RGDNCBI36
Celera1153,429,530 - 153,429,748RGD
Cytogenetic Map1q25.1UniSTS
HuRef1151,553,150 - 151,553,368UniSTS
GeneMap99-GB4 RH Map1630.47UniSTS
AL034203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371180,288,242 - 180,288,389UniSTSGRCh37
Build 361178,554,865 - 178,555,012RGDNCBI36
Celera1153,395,475 - 153,395,622RGD
Cytogenetic Map1q25.1UniSTS
HuRef1151,519,100 - 151,519,247UniSTS
SHGC-154434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371180,383,997 - 180,384,283UniSTSGRCh37
Build 361178,650,620 - 178,650,906RGDNCBI36
Celera1153,490,873 - 153,491,159RGD
Cytogenetic Map1q25.1UniSTS
HuRef1151,614,632 - 151,614,918UniSTS
TNG Radiation Hybrid Map184851.0UniSTS
SHGC-76002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371180,330,443 - 180,330,573UniSTSGRCh37
Build 361178,597,066 - 178,597,196RGDNCBI36
Celera1153,437,336 - 153,437,466RGD
Cytogenetic Map1q25.1UniSTS
HuRef1151,560,955 - 151,561,085UniSTS
TNG Radiation Hybrid Map184836.0UniSTS
GeneMap99-GB4 RH Map1630.4UniSTS
REN85236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371180,398,342 - 180,398,608UniSTSGRCh37
GRCh372134,805,720 - 34,805,959UniSTSGRCh37
Build 361178,664,965 - 178,665,231RGDNCBI36
Celera1153,505,222 - 153,505,490RGD
Celera2119,995,807 - 19,996,046UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map21q22.11UniSTS
HuRef313,505,675 - 13,505,927UniSTS
HuRef2120,274,278 - 20,274,517UniSTS
At-8BJ-008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371180,300,795 - 180,301,341UniSTSGRCh37
Build 361178,567,418 - 178,567,964RGDNCBI36
Celera1153,407,704 - 153,408,250RGD


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1720 2342 4 619 1948 461 2268 7278 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA085012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL537685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL561590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY606133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU170874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM258702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM258703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM258704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM258705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367595   ⟹   ENSP00000356567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,288,230 - 180,502,577 (-)Ensembl
Ensembl Acc Id: ENST00000415414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,269,653 - 180,274,681 (-)Ensembl
Ensembl Acc Id: ENST00000440959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,272,602 - 180,276,224 (-)Ensembl
Ensembl Acc Id: ENST00000475338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,286,983 - 180,413,388 (-)Ensembl
Ensembl Acc Id: ENST00000496993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,275,380 - 180,430,262 (-)Ensembl
Ensembl Acc Id: ENST00000622400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,273,614 - 180,274,713 (-)Ensembl
Ensembl Acc Id: ENST00000642319   ⟹   ENSP00000495710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,269,653 - 180,502,954 (-)Ensembl
Ensembl Acc Id: ENST00000645415   ⟹   ENSP00000494507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1180,269,653 - 180,502,954 (-)Ensembl
RefSeq Acc Id: NM_032360   ⟹   NP_115736
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,288,230 - 180,502,577 (-)NCBI
GRCh371180,257,352 - 180,472,022 (-)RGD
Build 361178,523,988 - 178,738,102 (-)NCBI Archive
Celera1153,364,592 - 153,578,887 (-)RGD
HuRef1151,488,279 - 151,702,640 (-)ENTREZGENE
CHM1_11181,680,679 - 181,893,779 (-)NCBI
T2T-CHM13v2.01179,643,616 - 179,857,576 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432080   ⟹   XP_047288036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,269,653 - 180,502,577 (-)NCBI
RefSeq Acc Id: XM_047432081   ⟹   XP_047288037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,269,653 - 180,502,577 (-)NCBI
RefSeq Acc Id: XM_047432082   ⟹   XP_047288038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,269,653 - 180,502,577 (-)NCBI
RefSeq Acc Id: XM_047432083   ⟹   XP_047288039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,269,653 - 180,502,577 (-)NCBI
RefSeq Acc Id: XM_047432084   ⟹   XP_047288040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,269,653 - 180,502,577 (-)NCBI
RefSeq Acc Id: XM_047432085   ⟹   XP_047288041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,269,653 - 180,502,577 (-)NCBI
RefSeq Acc Id: XM_054339185   ⟹   XP_054195160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBI
RefSeq Acc Id: XM_054339186   ⟹   XP_054195161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBI
RefSeq Acc Id: XM_054339187   ⟹   XP_054195162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBI
RefSeq Acc Id: XM_054339188   ⟹   XP_054195163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBI
RefSeq Acc Id: XM_054339189   ⟹   XP_054195164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBI
RefSeq Acc Id: XM_054339190   ⟹   XP_054195165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01179,625,056 - 179,857,576 (-)NCBI
RefSeq Acc Id: NP_115736   ⟸   NM_032360
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000356567   ⟸   ENST00000367595
Ensembl Acc Id: ENSP00000495710   ⟸   ENST00000642319
Ensembl Acc Id: ENSP00000494507   ⟸   ENST00000645415
RefSeq Acc Id: XP_047288039   ⟸   XM_047432083
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288036   ⟸   XM_047432080
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288038   ⟸   XM_047432082
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288037   ⟸   XM_047432081
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288041   ⟸   XM_047432085
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288040   ⟸   XM_047432084
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195163   ⟸   XM_054339188
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195160   ⟸   XM_054339185
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195162   ⟸   XM_054339187
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195161   ⟸   XM_054339186
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195165   ⟸   XM_054339190
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195164   ⟸   XM_054339189
- Peptide Label: isoform X1
- UniProtKB: Q9BR61 (UniProtKB/Swiss-Prot),   B2RAA8 (UniProtKB/TrEMBL)
Protein Domains
ACB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BR61-F1-model_v2 AlphaFold Q9BR61 1-282 view protein structure

Promoters
RGD ID:6784543
Promoter ID:HG_KWN:6409
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000084998
Position:
Human AssemblyChrPosition (strand)Source
Build 361178,738,111 - 178,738,727 (-)MPROMDB
RGD ID:6858284
Promoter ID:EPDNEW_H2307
Type:initiation region
Name:ACBD6_2
Description:acyl-CoA binding domain containing 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2308  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,502,577 - 180,502,637EPDNEW
RGD ID:6858286
Promoter ID:EPDNEW_H2308
Type:initiation region
Name:ACBD6_1
Description:acyl-CoA binding domain containing 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2307  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381180,502,862 - 180,502,922EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23339 AgrOrtholog
COSMIC ACBD6 COSMIC
Ensembl Genes ENSG00000230124 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367595 ENTREZGENE
  ENST00000367595.4 UniProtKB/Swiss-Prot
  ENST00000642319 ENTREZGENE
  ENST00000642319.1 UniProtKB/Swiss-Prot
  ENST00000645415.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000230124 GTEx
HGNC ID HGNC:23339 ENTREZGENE
Human Proteome Map ACBD6 Human Proteome Map
InterPro Acyl-CoA-binding_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA-binding_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84320 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84320 ENTREZGENE
OMIM 616352 OMIM
PANTHER ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 UniProtKB/Swiss-Prot
  ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 UniProtKB/Swiss-Prot
  ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 UniProtKB/TrEMBL
  ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 UniProtKB/TrEMBL
Pfam ACBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134925459 PharmGKB
PRINTS ACOABINDINGP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y544_HUMAN UniProtKB/TrEMBL
  ACBD6_HUMAN UniProtKB/Swiss-Prot
  B2RAA8 ENTREZGENE, UniProtKB/TrEMBL
  Q9BR61 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ACBD6  acyl-CoA binding domain containing 6  ACBD6  acyl-Coenzyme A binding domain containing 6  Symbol and/or name change 5135510 APPROVED