COL25A1 (collagen type XXV alpha 1 chain) - Rat Genome Database

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Gene: COL25A1 (collagen type XXV alpha 1 chain) Homo sapiens
Analyze
Symbol: COL25A1
Name: collagen type XXV alpha 1 chain
RGD ID: 1603375
HGNC Page HGNC:18603
Description: Enables amyloid-beta binding activity; heparin binding activity; and identical protein binding activity. Predicted to act upstream of or within axonogenesis involved in innervation. Located in extracellular space and plasma membrane. Implicated in congenital fibrosis of the extraocular muscles 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alzheimer disease amyloid-associated protein; AMY; CFEOM5; CLAC; CLAC-P; CLACP; collagen alpha-1(XXV) chain; collagen type XXV alpha 1; collagen, type XXV, alpha 1; collagen-like Alzheimer amyloid plaque component; collagenous Alzheimer amyloid plaque component
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
GRCh384108,808,725 - 109,302,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4108,808,725 - 109,302,752 (-)EnsemblGRCh38hg38GRCh38
GRCh374109,729,881 - 110,223,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364109,954,421 - 110,443,248 (-)NCBINCBI36Build 36hg18NCBI36
Celera4107,029,732 - 107,518,680 (-)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4105,464,237 - 105,956,593 (-)NCBIHuRef
CHM1_14109,708,453 - 110,200,435 (-)NCBICHM1_1
T2T-CHM13v2.04112,110,611 - 112,604,870 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal best corrected visual acuity test  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal pupil shape  (IAGP)
Abnormal visual field test  (IAGP)
Abnormality of ocular abduction  (IAGP)
Abnormality of refraction  (IAGP)
Acetabular dysplasia  (IAGP)
Amblyopia  (IAGP)
Anisocoria  (IAGP)
Ankle flexion contracture  (IAGP)
Aplasia of the olfactory bulb  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brain imaging abnormality  (IAGP)
Breech presentation  (IAGP)
Cataract  (IAGP)
Compensatory chin elevation  (IAGP)
Congenital fibrosis of extraocular muscles  (IAGP)
Congenital onset  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Decreased fetal movement  (IAGP)
Delayed gross motor development  (IAGP)
Duane anomaly  (IAGP)
Elbow flexion contracture  (IAGP)
EMG: chronic denervation signs  (IAGP)
Equinovarus deformity  (IAGP)
Esotropia  (IAGP)
Exotropia  (IAGP)
Fasciculations  (IAGP)
Feeding difficulties  (IAGP)
Finger aplasia  (IAGP)
Flexion contracture  (IAGP)
Hip contracture  (IAGP)
Hip dislocation  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypotonia  (IAGP)
Impaired ocular adduction  (IAGP)
Intellectual disability  (IAGP)
Knee flexion contracture  (IAGP)
Levator palpebrae superioris atrophy  (IAGP)
Limited vertical extraocular movement  (IAGP)
Lower limb muscle weakness  (IAGP)
Marcus Gunn jaw winking synkinesis  (IAGP)
Micrognathia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Miosis  (IAGP)
Myopathic facies  (IAGP)
Nonprogressive restrictive external ophthalmoplegia  (IAGP)
Oligohydramnios  (IAGP)
Optic nerve hypoplasia  (IAGP)
Plagiocephaly  (IAGP)
Polymicrogyria  (IAGP)
Ptosis  (IAGP)
Respiratory distress  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Rocker bottom foot  (IAGP)
Scaphocephaly  (IAGP)
Scoliosis  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin dimple  (IAGP)
Slow pupillary light response  (IAGP)
Strabismus  (IAGP)
Torticollis  (IAGP)
Upper limb muscle weakness  (IAGP)
Vomiting  (IAGP)
Wrist flexion contracture  (IAGP)
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
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11927537   PMID:12477932   PMID:14656069   PMID:14702039   PMID:15215182   PMID:15522881   PMID:15615705   PMID:15853808   PMID:16300410   PMID:18501477   PMID:19548013   PMID:20332099  
PMID:20379614   PMID:21408207   PMID:21688384   PMID:21873635   PMID:22297151   PMID:23018867   PMID:25037231   PMID:25133637   PMID:25500261   PMID:26486031   PMID:26760575   PMID:28514442  
PMID:29987050   PMID:33287899   PMID:33961781   PMID:35077597   PMID:36543142   PMID:38334954  


Genomics

Comparative Map Data
COL25A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384108,808,725 - 109,302,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4108,808,725 - 109,302,752 (-)EnsemblGRCh38hg38GRCh38
GRCh374109,729,881 - 110,223,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364109,954,421 - 110,443,248 (-)NCBINCBI36Build 36hg18NCBI36
Celera4107,029,732 - 107,518,680 (-)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4105,464,237 - 105,956,593 (-)NCBIHuRef
CHM1_14109,708,453 - 110,200,435 (-)NCBICHM1_1
T2T-CHM13v2.04112,110,611 - 112,604,870 (-)NCBIT2T-CHM13v2.0
Col25a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393129,973,992 - 130,393,533 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3129,925,150 - 130,393,526 (+)EnsemblGRCm39 Ensembl
GRCm383130,180,358 - 130,599,884 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3130,131,501 - 130,599,877 (+)EnsemblGRCm38mm10GRCm38
MGSCv373129,883,796 - 130,299,335 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363130,170,033 - 130,585,572 (+)NCBIMGSCv36mm8
Celera3136,700,003 - 137,111,818 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map359.99NCBI
Col25a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82221,429,378 - 221,828,536 (+)NCBIGRCr8
mRatBN7.22218,755,152 - 219,154,348 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2218,755,691 - 219,153,501 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02235,515,364 - 235,705,448 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2235,596,123 - 235,715,057 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02254,067,074 - 254,256,966 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2211,033,464 - 211,420,527 (+)NCBICelera
Cytogenetic Map2q43NCBI
Col25a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955496839,561 - 1,250,614 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955496839,474 - 1,255,107 (+)NCBIChiLan1.0ChiLan1.0
COL25A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23106,903,996 - 107,403,679 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14107,199,882 - 107,697,183 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04101,311,291 - 101,808,618 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14111,885,022 - 112,378,687 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4111,886,313 - 112,378,062 (-)Ensemblpanpan1.1panPan2
COL25A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13229,119,875 - 29,567,994 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3229,124,996 - 29,567,481 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3212,454,708 - 12,899,162 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03229,350,282 - 29,794,748 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3229,350,312 - 29,794,242 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13229,344,713 - 29,789,307 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03229,089,004 - 29,534,144 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03210,322,491 - 10,767,078 (+)NCBIUU_Cfam_GSD_1.0
Col25a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530111,393,313 - 11,849,115 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936563105,551 - 557,682 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL25A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8112,867,664 - 113,334,097 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18112,866,597 - 113,335,765 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28121,286,327 - 121,453,787 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COL25A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1756,730,456 - 57,229,587 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603735,356,307 - 35,872,306 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col25a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624830440,429 - 838,818 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624830440,028 - 842,635 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL25A1
98 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198721.4(COL25A1):c.1797C>G (p.Phe599Leu) single nucleotide variant not provided [RCV000520840] Chr4:108824222 [GRCh38]
Chr4:109745378 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 copy number gain See cases [RCV000051777] Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25		 pathogenic
NM_001256074.1(COL25A1):c.768+1869G>A single nucleotide variant Lung cancer [RCV000093938] Chr4:108916303 [GRCh38]
Chr4:109837459 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001256074.1(COL25A1):c.492+5008G>A single nucleotide variant Lung cancer [RCV000093939] Chr4:108969359 [GRCh38]
Chr4:109890515 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001256074.1(COL25A1):c.368-22645C>T single nucleotide variant Lung cancer [RCV000093940] Chr4:109072824 [GRCh38]
Chr4:109993980 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001256074.1(COL25A1):c.368-39344A>T single nucleotide variant Lung cancer [RCV000093941] Chr4:109089523 [GRCh38]
Chr4:110010679 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q25(chr4:109267901-109469145)x3 copy number gain See cases [RCV000135166] Chr4:109267901..109469145 [GRCh38]
Chr4:110189057..110390301 [GRCh37]
Chr4:110408506..110609750 [NCBI36]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) single nucleotide variant Fibrosis of extraocular muscles, congenital, 5 [RCV000157645] Chr4:108863327 [GRCh38]
Chr4:109784483 [GRCh37]
Chr4:4q25		 pathogenic|not provided
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) single nucleotide variant Fibrosis of extraocular muscles, congenital, 5 [RCV000157646] Chr4:108846165 [GRCh38]
Chr4:109767321 [GRCh37]
Chr4:4q25		 pathogenic|not provided
NM_198721.4:c.368-5122_708+6063del deletion Fibrosis of extraocular muscles, congenital, 5 [RCV000157647] Chr4:4q25 pathogenic|not provided
NM_198721.4(COL25A1):c.1709G>A (p.Arg570Lys) single nucleotide variant not provided [RCV000523075] Chr4:108832381 [GRCh38]
Chr4:109753537 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_198721.4(COL25A1):c.635C>G (p.Thr212Arg) single nucleotide variant Inborn genetic diseases [RCV004608075] Chr4:108940576 [GRCh38]
Chr4:109861732 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q24-25(chr4:105039193-110409978)x3 copy number gain not provided [RCV000743885] Chr4:105039193..110409978 [GRCh37]
Chr4:4q24-25		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_198721.4(COL25A1):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV000897022] Chr4:109300620 [GRCh38]
Chr4:110221776 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.288T>C (p.Leu96=) single nucleotide variant not provided [RCV000895075] Chr4:109301732 [GRCh38]
Chr4:110222888 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.305A>G (p.Tyr102Cys) single nucleotide variant not provided [RCV001573286] Chr4:109300645 [GRCh38]
Chr4:110221801 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1560G>A (p.Pro520=) single nucleotide variant not provided [RCV000905582] Chr4:108845207 [GRCh38]
Chr4:109766363 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.204C>T (p.Ser68=) single nucleotide variant not provided [RCV000968581] Chr4:109301816 [GRCh38]
Chr4:110222972 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.672C>T (p.Pro224=) single nucleotide variant not provided [RCV000927596] Chr4:108940539 [GRCh38]
Chr4:109861695 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.36C>T (p.Gly12=) single nucleotide variant COL25A1-related disorder [RCV003975709]|not provided [RCV000899221] Chr4:109301984 [GRCh38]
Chr4:110223140 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.603C>A (p.Gly201=) single nucleotide variant COL25A1-related disorder [RCV003918452]|not provided [RCV000970970] Chr4:108940608 [GRCh38]
Chr4:109861764 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.390G>A (p.Lys130=) single nucleotide variant COL25A1-related disorder [RCV003970529]|not provided [RCV000925444] Chr4:109050157 [GRCh38]
Chr4:109971313 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1289A>G (p.Asp430Gly) single nucleotide variant not provided [RCV000946804] Chr4:108859687 [GRCh38]
Chr4:109780843 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.1359T>A (p.Pro453=) single nucleotide variant not provided [RCV000926426] Chr4:108852266 [GRCh38]
Chr4:109773422 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.696A>C (p.Glu232Asp) single nucleotide variant COL25A1-related disorder [RCV003953348]|not provided [RCV000975044] Chr4:108937820 [GRCh38]
Chr4:109858976 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_198721.4(COL25A1):c.1866G>A (p.Gly622=) single nucleotide variant not provided [RCV000895941] Chr4:108819309 [GRCh38]
Chr4:109740465 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.414T>A (p.Gly138=) single nucleotide variant not provided [RCV000932077] Chr4:109048174 [GRCh38]
Chr4:109969330 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1345-10C>G single nucleotide variant not provided [RCV000946803] Chr4:108852290 [GRCh38]
Chr4:109773446 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4q25(chr4:110155156-110386827)x3 copy number gain not provided [RCV000849541] Chr4:110155156..110386827 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1662A>T (p.Thr554=) single nucleotide variant not provided [RCV000939511] Chr4:108832428 [GRCh38]
Chr4:109753584 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4q25(chr4:109774482-109830388)x1 copy number loss not provided [RCV001005586] Chr4:109774482..109830388 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q25(chr4:110158710-110393594)x3 copy number gain not provided [RCV001005587] Chr4:110158710..110393594 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_198721.4(COL25A1):c.1698C>A (p.Pro566=) single nucleotide variant not provided [RCV000914607] Chr4:108832392 [GRCh38]
Chr4:109753548 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.441C>A (p.Gly147=) single nucleotide variant not provided [RCV000887394] Chr4:108974557 [GRCh38]
Chr4:109895713 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.781-5T>C single nucleotide variant not provided [RCV000928274] Chr4:108901177 [GRCh38]
Chr4:109822333 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1314C>T (p.Ala438=) single nucleotide variant not provided [RCV000940246] Chr4:108859662 [GRCh38]
Chr4:109780818 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.229C>T (p.Leu77=) single nucleotide variant not provided [RCV000935076] Chr4:109301791 [GRCh38]
Chr4:110222947 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.412+9C>T single nucleotide variant not provided [RCV000890119] Chr4:109050126 [GRCh38]
Chr4:109971282 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.962G>A (p.Arg321His) single nucleotide variant Inborn genetic diseases [RCV004608070] Chr4:108889234 [GRCh38]
Chr4:109810390 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1273G>A (p.Ala425Thr) single nucleotide variant Inborn genetic diseases [RCV004608071] Chr4:108859703 [GRCh38]
Chr4:109780859 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1876G>A (p.Glu626Lys) single nucleotide variant Inborn genetic diseases [RCV004608072] Chr4:108819299 [GRCh38]
Chr4:109740455 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1808G>A (p.Arg603Gln) single nucleotide variant Inborn genetic diseases [RCV004608074] Chr4:108824211 [GRCh38]
Chr4:109745367 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) single nucleotide variant Arthrogryposis [RCV004764971]|Fibrosis of extraocular muscles, congenital, 5 [RCV001780813] Chr4:109050165 [GRCh38]
Chr4:109971321 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_198721.4(COL25A1):c.130G>A (p.Val44Met) single nucleotide variant Fibrosis of extraocular muscles, congenital, 5 [RCV001802673]|Inborn genetic diseases [RCV002541371] Chr4:109301890 [GRCh38]
Chr4:110223046 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_198721.4(COL25A1):c.1616C>A (p.Pro539Gln) single nucleotide variant Inborn genetic diseases [RCV004608073] Chr4:108844532 [GRCh38]
Chr4:109765688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.359G>T (p.Cys120Phe) single nucleotide variant Inborn genetic diseases [RCV004608076] Chr4:109300591 [GRCh38]
Chr4:110221747 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.672+1del deletion Fibrosis of extraocular muscles, congenital, 5 [RCV002272920] Chr4:108940538 [GRCh38]
Chr4:109861694 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_198721.4(COL25A1):c.672+1G>A single nucleotide variant Fibrosis of extraocular muscles, congenital, 5 [RCV002272850] Chr4:108940538 [GRCh38]
Chr4:109861694 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_198721.4(COL25A1):c.308A>G (p.Glu103Gly) single nucleotide variant Inborn genetic diseases [RCV003300479] Chr4:109300642 [GRCh38]
Chr4:110221798 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.98C>T (p.Pro33Leu) single nucleotide variant Inborn genetic diseases [RCV003282060] Chr4:109301922 [GRCh38]
Chr4:110223078 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1215A>C (p.Lys405Asn) single nucleotide variant Inborn genetic diseases [RCV002776946] Chr4:108860954 [GRCh38]
Chr4:109782110 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1517G>C (p.Gly506Ala) single nucleotide variant Inborn genetic diseases [RCV002990157] Chr4:108845250 [GRCh38]
Chr4:109766406 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1139C>T (p.Ala380Val) single nucleotide variant Inborn genetic diseases [RCV002684783] Chr4:108863332 [GRCh38]
Chr4:109784488 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1090C>T (p.Arg364Trp) single nucleotide variant Inborn genetic diseases [RCV002689071] Chr4:108863381 [GRCh38]
Chr4:109784537 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.920C>G (p.Ser307Ter) single nucleotide variant not provided [RCV002970750] Chr4:108889720 [GRCh38]
Chr4:109810876 [GRCh37]
Chr4:4q25		 pathogenic
NM_198721.4(COL25A1):c.1216G>C (p.Gly406Arg) single nucleotide variant Inborn genetic diseases [RCV002753067] Chr4:108860953 [GRCh38]
Chr4:109782109 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.172G>A (p.Asp58Asn) single nucleotide variant Inborn genetic diseases [RCV002754487] Chr4:109301848 [GRCh38]
Chr4:110223004 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1948G>C (p.Gly650Arg) single nucleotide variant Inborn genetic diseases [RCV002848487] Chr4:108817411 [GRCh38]
Chr4:109738567 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.434C>T (p.Pro145Leu) single nucleotide variant Inborn genetic diseases [RCV002980932] Chr4:109010362 [GRCh38]
Chr4:109931518 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1524T>A (p.Asn508Lys) single nucleotide variant Inborn genetic diseases [RCV002853590] Chr4:108845243 [GRCh38]
Chr4:109766399 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.474A>C (p.Gln158His) single nucleotide variant Inborn genetic diseases [RCV002769049] Chr4:108974385 [GRCh38]
Chr4:109895541 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.557T>C (p.Leu186Pro) single nucleotide variant Inborn genetic diseases [RCV002878637] Chr4:108941373 [GRCh38]
Chr4:109862529 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.98C>A (p.Pro33Gln) single nucleotide variant Inborn genetic diseases [RCV002939222] Chr4:109301922 [GRCh38]
Chr4:110223078 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1807C>T (p.Arg603Trp) single nucleotide variant Inborn genetic diseases [RCV002674401] Chr4:108824212 [GRCh38]
Chr4:109745368 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1742C>T (p.Pro581Leu) single nucleotide variant Inborn genetic diseases [RCV003195364] Chr4:108827157 [GRCh38]
Chr4:109748313 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1303C>A (p.Leu435Ile) single nucleotide variant Inborn genetic diseases [RCV003179476] Chr4:108859673 [GRCh38]
Chr4:109780829 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1598del (p.Pro533fs) deletion Fibrosis of extraocular muscles, congenital, 5 [RCV003228197] Chr4:108844550 [GRCh38]
Chr4:109765706 [GRCh37]
Chr4:4q25		 pathogenic
NM_198721.4(COL25A1):c.367+4A>G single nucleotide variant not provided [RCV003223168] Chr4:109300579 [GRCh38]
Chr4:110221735 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1819G>T (p.Gly607Cys) single nucleotide variant Inborn genetic diseases [RCV003282254] Chr4:108824200 [GRCh38]
Chr4:109745356 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.273G>T (p.Glu91Asp) single nucleotide variant Inborn genetic diseases [RCV003198698] Chr4:109301747 [GRCh38]
Chr4:110222903 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1514C>T (p.Pro505Leu) single nucleotide variant Inborn genetic diseases [RCV003194294] Chr4:108846140 [GRCh38]
Chr4:109767296 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.189C>G (p.Ile63Met) single nucleotide variant Inborn genetic diseases [RCV003214372] Chr4:109301831 [GRCh38]
Chr4:110222987 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.59C>T (p.Pro20Leu) single nucleotide variant Inborn genetic diseases [RCV003309004] Chr4:109301961 [GRCh38]
Chr4:110223117 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.140T>C (p.Val47Ala) single nucleotide variant Inborn genetic diseases [RCV003265874] Chr4:109301880 [GRCh38]
Chr4:110223036 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1580T>C (p.Ile527Thr) single nucleotide variant Inborn genetic diseases [RCV003371739] Chr4:108844568 [GRCh38]
Chr4:109765724 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.117C>T (p.Ala39=) single nucleotide variant not provided [RCV003435130] Chr4:109301903 [GRCh38]
Chr4:110223059 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_198721.4(COL25A1):c.653G>A (p.Arg218His) single nucleotide variant Inborn genetic diseases [RCV004444850] Chr4:108940558 [GRCh38]
Chr4:109861714 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.550C>T (p.Arg184Cys) single nucleotide variant Inborn genetic diseases [RCV003345003] Chr4:108941380 [GRCh38]
Chr4:109862536 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1645C>T (p.Pro549Ser) single nucleotide variant Inborn genetic diseases [RCV004444842] Chr4:108841706 [GRCh38]
Chr4:109762862 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.37C>T (p.Arg13Trp) single nucleotide variant Inborn genetic diseases [RCV004444846] Chr4:109301983 [GRCh38]
Chr4:110223139 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.404G>A (p.Gly135Glu) single nucleotide variant Inborn genetic diseases [RCV004444847] Chr4:109050143 [GRCh38]
Chr4:109971299 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.485G>A (p.Gly162Glu) single nucleotide variant Inborn genetic diseases [RCV004444848] Chr4:108974374 [GRCh38]
Chr4:109895530 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.787C>T (p.Pro263Ser) single nucleotide variant Inborn genetic diseases [RCV004444852] Chr4:108901166 [GRCh38]
Chr4:109822322 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.932G>C (p.Gly311Ala) single nucleotide variant Inborn genetic diseases [RCV004444853] Chr4:108889708 [GRCh38]
Chr4:109810864 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.116C>T (p.Ala39Val) single nucleotide variant Inborn genetic diseases [RCV004444839] Chr4:109301904 [GRCh38]
Chr4:110223060 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.906+5A>T single nucleotide variant COL25A1-related disorder [RCV003974290] Chr4:108896662 [GRCh38]
Chr4:109817818 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.344C>T (p.Pro115Leu) single nucleotide variant Inborn genetic diseases [RCV004444845] Chr4:109300606 [GRCh38]
Chr4:110221762 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.68C>A (p.Ala23Asp) single nucleotide variant Inborn genetic diseases [RCV004444851] Chr4:109301952 [GRCh38]
Chr4:110223108 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1344+6T>G single nucleotide variant COL25A1-related disorder [RCV003909279] Chr4:108852896 [GRCh38]
Chr4:109774052 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_198721.4(COL25A1):c.19G>T (p.Ala7Ser) single nucleotide variant Inborn genetic diseases [RCV004444843] Chr4:109302001 [GRCh38]
Chr4:110223157 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.216C>G (p.Ala72=) single nucleotide variant COL25A1-related disorder [RCV003924101] Chr4:109301804 [GRCh38]
Chr4:110222960 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1616C>T (p.Pro539Leu) single nucleotide variant Inborn genetic diseases [RCV004444841] Chr4:108844532 [GRCh38]
Chr4:109765688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.867C>T (p.Asp289=) single nucleotide variant COL25A1-related disorder [RCV003963878] Chr4:108896706 [GRCh38]
Chr4:109817862 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.609A>G (p.Pro203=) single nucleotide variant COL25A1-related disorder [RCV003969600] Chr4:108940602 [GRCh38]
Chr4:109861758 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.493-777G>A single nucleotide variant COL25A1-related disorder [RCV003977405] Chr4:108942214 [GRCh38]
Chr4:109863370 [GRCh37]
Chr4:4q25		 benign
NM_198721.4(COL25A1):c.1657-3del deletion COL25A1-related disorder [RCV003909611] Chr4:108832436 [GRCh38]
Chr4:109753592 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.7C>G (p.Leu3Val) single nucleotide variant COL25A1-related disorder [RCV003961841] Chr4:109302013 [GRCh38]
Chr4:110223169 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.862-9C>T single nucleotide variant COL25A1-related disorder [RCV003977102] Chr4:108896720 [GRCh38]
Chr4:109817876 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser) single nucleotide variant Fibrosis of extraocular muscles, congenital, 5 [RCV003990842] Chr4:108844563 [GRCh38]
Chr4:109765719 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1280A>G (p.Glu427Gly) single nucleotide variant Inborn genetic diseases [RCV004444840] Chr4:108859696 [GRCh38]
Chr4:109780852 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.1949G>A (p.Gly650Asp) single nucleotide variant COL25A1-related disorder [RCV004757825] Chr4:108817410 [GRCh38]
Chr4:109738566 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.1926G>T (p.Gly642=) single nucleotide variant COL25A1-related disorder [RCV004757917] Chr4:108817433 [GRCh38]
Chr4:109738589 [GRCh37]
Chr4:4q25		 likely benign
NM_198721.4(COL25A1):c.570C>A (p.Asp190Glu) single nucleotide variant Inborn genetic diseases [RCV004444849] Chr4:108940641 [GRCh38]
Chr4:109861797 [GRCh37]
Chr4:4q25		 uncertain significance
NM_198721.4(COL25A1):c.316G>A (p.Ala106Thr) single nucleotide variant Inborn genetic diseases [RCV004444844] Chr4:109300634 [GRCh38]
Chr4:110221790 [GRCh37]
Chr4:4q25		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1804
Count of miRNA genes:914
Interacting mature miRNAs:1061
Transcripts:ENST00000399126, ENST00000399127, ENST00000399132, ENST00000494183, ENST00000505377, ENST00000505591, ENST00000512961
Prediction methods: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
407289414GWAS938390_Hvaginal microbiome measurement QTL GWAS938390 (human)0.000007vaginal microbiome measurement4109225176109225177Human
407285831GWAS934807_Hvaginal microbiome measurement QTL GWAS934807 (human)0.0000002vaginal microbiome measurement4109225176109225177Human
406957959GWAS606935_Hcarotid plaque build QTL GWAS606935 (human)0.000001carotid plaque build4109034785109034786Human
407287296GWAS936272_Hhigh density lipoprotein cholesterol measurement QTL GWAS936272 (human)1e-21high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4109174464109174465Human
406964678GWAS613654_HCOVID-19 QTL GWAS613654 (human)4e-08COVID-194108838313108838314Human
407258255GWAS907231_Hvaginal microbiome measurement QTL GWAS907231 (human)0.000005vaginal microbiome measurement4109225176109225177Human
407257869GWAS906845_Hhigh density lipoprotein cholesterol measurement QTL GWAS906845 (human)2e-31high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4109174464109174465Human
407286282GWAS935258_Hvaginal microbiome measurement QTL GWAS935258 (human)0.000009vaginal microbiome measurement4109225176109225177Human
407076815GWAS725791_Hlate-onset Alzheimers disease QTL GWAS725791 (human)0.0000008late-onset Alzheimers disease4109251730109251731Human
407039378GWAS688354_Hbody mass index QTL GWAS688354 (human)0.0000005body mass indexbody mass index (BMI) (CMO:0000105)4109057975109057976Human
407269655GWAS918631_Hbody height QTL GWAS918631 (human)0.000002body height (VT:0001253)body height (CMO:0000106)4108823766108823767Human
407032273GWAS681249_Hfree androgen index QTL GWAS681249 (human)4e-09free androgen index4109174464109174465Human
406928277GWAS577253_Hbody height QTL GWAS577253 (human)0.000002body height (VT:0001253)body height (CMO:0000106)4109079519109079520Human
406903834GWAS552810_HR-warfarin measurement QTL GWAS552810 (human)0.000009R-warfarin measurement4108984279108984280Human
407145752GWAS794728_Hschizophrenia, age at onset QTL GWAS794728 (human)0.000004schizophrenia, age at onset4108959574108959575Human
407311643GWAS960619_Htestosterone measurement QTL GWAS960619 (human)7e-09testosterone measurementserum testosterone level (CMO:0000568)4109108768109108769Human
406948509GWAS597485_Hspermidine measurement QTL GWAS597485 (human)4e-08spermidine measurement4109176399109176400Human
1643256BW127_HBody Weight QTL 127 (human)1.310.007Body weightbody mass index4106319694132319694Human
407333220GWAS982196_Htriglyceride measurement QTL GWAS982196 (human)3e-33triglyceride measurementblood triglyceride level (CMO:0000118)4109174464109174465Human
407307299GWAS956275_Hcortical surface area change measurement QTL GWAS956275 (human)0.000005cortical surface area change measurement4109118383109118384Human
407288175GWAS937151_Hvaginal microbiome measurement QTL GWAS937151 (human)5e-09vaginal microbiome measurement4109225176109225177Human
407133482GWAS782458_Hmemory performance QTL GWAS782458 (human)0.0000005memory performance4109067562109067563Human
407330857GWAS979833_Hnon-high density lipoprotein cholesterol measurement QTL GWAS979833 (human)5e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)4109174464109174465Human
407269942GWAS918918_Hbody height QTL GWAS918918 (human)1e-25body height (VT:0001253)body height (CMO:0000106)4109096026109096027Human
407316789GWAS965765_Hnon-high density lipoprotein cholesterol measurement QTL GWAS965765 (human)3e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)4109174464109174465Human
407269941GWAS918917_Hbody height QTL GWAS918917 (human)6e-21body height (VT:0001253)body height (CMO:0000106)4108860632108860633Human
407326450GWAS975426_Htestosterone measurement QTL GWAS975426 (human)2e-08testosterone measurementserum testosterone level (CMO:0000568)4109108768109108769Human
407324593GWAS973569_Hsex hormone-binding globulin measurement QTL GWAS973569 (human)1e-11sex hormone-binding globulin measurement4109104450109104451Human
406905911GWAS554887_Hbody height QTL GWAS554887 (human)0.000003body height (VT:0001253)body height (CMO:0000106)4109118612109118613Human
407337854GWAS986830_Htriglyceride measurement QTL GWAS986830 (human)7e-26triglyceride measurementblood triglyceride level (CMO:0000118)4109174464109174465Human
407254015GWAS902991_Hvaginal microbiome measurement QTL GWAS902991 (human)0.000003vaginal microbiome measurement4109225176109225177Human
407086713GWAS735689_Halcohol consumption measurement QTL GWAS735689 (human)0.000008alcohol consumption measurementethanol drink intake rate (CMO:0001407)4108819029108819030Human
407097406GWAS746382_Hcommon carotid intimal medial thickness QTL GWAS746382 (human)0.0000009common carotid intimal medial thickness4109159865109159866Human
406933628GWAS582604_Hreaction time measurement QTL GWAS582604 (human)0.000004reaction time measurement4109249480109249481Human
407269944GWAS918920_Hbody height QTL GWAS918920 (human)4e-10body height (VT:0001253)body height (CMO:0000106)4109096050109096051Human

Markers in Region
D4S3240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,794,608 - 109,794,926UniSTSGRCh37
Build 364110,014,057 - 110,014,375RGDNCBI36
Celera4107,089,378 - 107,089,699RGD
Cytogenetic Map4q25UniSTS
HuRef4105,527,005 - 105,527,326UniSTS
Marshfield Genetic Map4114.04RGD
Marshfield Genetic Map4114.04UniSTS
deCODE Assembly Map4112.5UniSTS
D4S1571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,108,267 - 110,108,421UniSTSGRCh37
GRCh374110,108,274 - 110,108,436UniSTSGRCh37
Build 364110,327,723 - 110,327,885RGDNCBI36
Celera4107,403,142 - 107,403,307RGD
Cytogenetic Map4q25UniSTS
HuRef4105,841,063 - 105,841,226UniSTS
Marshfield Genetic Map4114.67UniSTS
Marshfield Genetic Map4114.67RGD
Genethon Genetic Map4113.2UniSTS
TNG Radiation Hybrid Map467274.0UniSTS
GeneMap99-GB4 RH Map4513.68UniSTS
Whitehead-RH Map4549.5UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-23220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,110,744 - 110,110,845UniSTSGRCh37
Build 364110,330,193 - 110,330,294RGDNCBI36
Celera4107,405,615 - 107,405,716RGD
Cytogenetic Map4q25UniSTS
HuRef4105,843,537 - 105,843,638UniSTS
TNG Radiation Hybrid Map467474.0UniSTS
SHGC-23040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,110,744 - 110,110,843UniSTSGRCh37
Build 364110,330,193 - 110,330,292RGDNCBI36
Celera4107,405,615 - 107,405,714RGD
Cytogenetic Map4q25UniSTS
HuRef4105,843,537 - 105,843,636UniSTS
TNG Radiation Hybrid Map467474.0UniSTS
L18131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,071,040 - 110,071,292UniSTSGRCh37
Build 364110,290,489 - 110,290,741RGDNCBI36
Celera4107,365,914 - 107,366,166RGD
Cytogenetic Map4q25UniSTS
HuRef4105,803,837 - 105,804,087UniSTS
SHGC-23036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,908,259 - 109,908,477UniSTSGRCh37
Build 364110,127,708 - 110,127,926RGDNCBI36
Celera4107,203,042 - 107,203,260RGD
Cytogenetic Map4q25UniSTS
HuRef4105,640,691 - 105,640,909UniSTS
TNG Radiation Hybrid Map469498.0UniSTS
SHGC-50465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,219,164 - 110,219,360UniSTSGRCh37
Build 364110,438,613 - 110,438,809RGDNCBI36
Celera4107,514,045 - 107,514,241RGD
Cytogenetic Map4q25UniSTS
HuRef4105,951,957 - 105,952,153UniSTS
TNG Radiation Hybrid Map467624.0UniSTS
RH92515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,974,741 - 109,974,929UniSTSGRCh37
Build 364110,194,190 - 110,194,378RGDNCBI36
Celera4107,269,621 - 107,269,809RGD
Cytogenetic Map4q25UniSTS
HuRef4105,707,485 - 105,707,673UniSTS
GeneMap99-GB4 RH Map4515.51UniSTS
RH91312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,219,206 - 110,219,360UniSTSGRCh37
Build 364110,438,655 - 110,438,809RGDNCBI36
Celera4107,514,087 - 107,514,241RGD
Cytogenetic Map4q25UniSTS
HuRef4105,951,999 - 105,952,153UniSTS
GeneMap99-GB4 RH Map4506.75UniSTS
SHGC-82565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,838,431 - 109,838,707UniSTSGRCh37
Build 364110,057,880 - 110,058,156RGDNCBI36
Celera4107,133,212 - 107,133,488RGD
Cytogenetic Map4q25UniSTS
HuRef4105,570,857 - 105,571,133UniSTS
TNG Radiation Hybrid Map469392.0UniSTS
RH104124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,903,844 - 109,904,006UniSTSGRCh37
Build 364110,123,293 - 110,123,455RGDNCBI36
Celera4107,198,627 - 107,198,789RGD
Cytogenetic Map4q25UniSTS
HuRef4105,636,276 - 105,636,438UniSTS
GeneMap99-GB4 RH Map4506.65UniSTS
RH120151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,819,110 - 109,819,429UniSTSGRCh37
Build 364110,038,559 - 110,038,878RGDNCBI36
Celera4107,113,881 - 107,114,200RGD
Cytogenetic Map4q25UniSTS
HuRef4105,551,527 - 105,551,845UniSTS
SHGC-89200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,746,959 - 109,747,300UniSTSGRCh37
Build 364109,966,408 - 109,966,749RGDNCBI36
Celera4107,041,716 - 107,042,057RGD
Cytogenetic Map4q25UniSTS
HuRef4105,479,329 - 105,479,670UniSTS
D4S1306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,851,145 - 109,851,328UniSTSGRCh37
Build 364110,070,594 - 110,070,777RGDNCBI36
Celera4107,145,928 - 107,146,111RGD
Cytogenetic Map4q25UniSTS
HuRef4105,583,577 - 105,583,760UniSTS
SHGC-23030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,197,779 - 110,197,897UniSTSGRCh37
Build 364110,417,228 - 110,417,346RGDNCBI36
Celera4107,492,666 - 107,492,784RGD
Cytogenetic Map4q25UniSTS
HuRef4105,930,573 - 105,930,691UniSTS
TNG Radiation Hybrid Map467603.0UniSTS
COL25A1_2958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,744,903 - 109,745,445UniSTSGRCh37
Build 364109,964,352 - 109,964,894RGDNCBI36
Celera4107,039,660 - 107,040,202RGD
HuRef4105,477,273 - 105,477,815UniSTS
SHGC-23223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,065,868 - 110,065,977UniSTSGRCh37
Build 364110,285,317 - 110,285,426RGDNCBI36
Celera4107,360,742 - 107,360,851RGD
Cytogenetic Map4q25UniSTS
HuRef4105,798,667 - 105,798,776UniSTS
SHGC-37631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,219,067 - 110,219,195UniSTSGRCh37
Build 364110,438,516 - 110,438,644RGDNCBI36
Celera4107,513,948 - 107,514,076RGD
Cytogenetic Map4q25UniSTS
HuRef4105,951,860 - 105,951,988UniSTS
G19541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,883,189 - 109,883,335UniSTSGRCh37
Build 364110,102,638 - 110,102,784RGDNCBI36
Celera4107,177,971 - 107,178,117RGD
Cytogenetic Map4q25UniSTS
HuRef4105,615,622 - 105,615,768UniSTS
D4S1178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,224,092 - 110,224,280UniSTSGRCh37
Build 364110,443,541 - 110,443,729RGDNCBI36
Celera4107,518,973 - 107,519,161RGD
Cytogenetic Map4q25UniSTS
HuRef4105,956,886 - 105,957,075UniSTS
SHGC-23039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,004,459 - 110,004,587UniSTSGRCh37
Build 364110,223,908 - 110,224,036RGDNCBI36
Celera4107,299,338 - 107,299,466RGD
Cytogenetic Map4q25UniSTS
HuRef4105,737,200 - 105,737,328UniSTS
TNG Radiation Hybrid Map470707.0UniSTS
D4S953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,128,582 - 110,128,774UniSTSGRCh37
Build 364110,348,031 - 110,348,223RGDNCBI36
Celera4107,423,453 - 107,423,645RGD
Cytogenetic Map4q25UniSTS
HuRef4105,861,375 - 105,861,567UniSTS
TNG Radiation Hybrid Map467574.0UniSTS
Stanford-G3 RH Map46304.0UniSTS
NCBI RH Map41175.4UniSTS
SHGC-23060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,844,383 - 109,844,483UniSTSGRCh37
Build 364110,063,832 - 110,063,932RGDNCBI36
Celera4107,139,165 - 107,139,265RGD
Cytogenetic Map4q25UniSTS
HuRef4105,576,814 - 105,576,914UniSTS
SHGC-23037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374109,866,550 - 109,866,645UniSTSGRCh37
Build 364110,085,999 - 110,086,094RGDNCBI36
Celera4107,161,337 - 107,161,432RGD
Cytogenetic Map4q25UniSTS
HuRef4105,598,988 - 105,599,083UniSTS
TNG Radiation Hybrid Map469398.0UniSTS
SHGC-23021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,100,014 - 110,100,119UniSTSGRCh37
Build 364110,319,463 - 110,319,568RGDNCBI36
Celera4107,394,882 - 107,394,987RGD
Cytogenetic Map4q25UniSTS
HuRef4105,832,803 - 105,832,908UniSTS
TNG Radiation Hybrid Map467474.0UniSTS
TNG Radiation Hybrid Map467374.0UniSTS
SHGC-23025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,100,014 - 110,100,119UniSTSGRCh37
Build 364110,319,463 - 110,319,568RGDNCBI36
Celera4107,394,882 - 107,394,987RGD
Cytogenetic Map4q25UniSTS
HuRef4105,832,803 - 105,832,908UniSTS
TNG Radiation Hybrid Map467474.0UniSTS
Stanford-G3 RH Map46369.0UniSTS
NCBI RH Map41179.5UniSTS
SHGC-23172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,098,053 - 110,098,225UniSTSGRCh37
Build 364110,317,502 - 110,317,674RGDNCBI36
Celera4107,392,921 - 107,393,093RGD
Cytogenetic Map4q25UniSTS
HuRef4105,830,842 - 105,831,014UniSTS
SHGC-23034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,100,035 - 110,100,129UniSTSGRCh37
Build 364110,319,484 - 110,319,578RGDNCBI36
Celera4107,394,903 - 107,394,997RGD
Cytogenetic Map4q25UniSTS
HuRef4105,832,824 - 105,832,918UniSTS
TNG Radiation Hybrid Map467474.0UniSTS
D4S1571  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q25UniSTS
TNG Radiation Hybrid Map467274.0UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2285 2786 2227 4923 1643 2121 2 552 1106 391 2255 6199 5598 37 3697 1 774 1680 1464 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF293340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF293341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000399126   ⟹   ENSP00000382077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,823,876 - 109,302,643 (-)Ensembl
Ensembl Acc Id: ENST00000399127   ⟹   ENSP00000382078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,823,876 - 109,302,367 (-)Ensembl
Ensembl Acc Id: ENST00000399132   ⟹   ENSP00000382083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,808,725 - 109,302,658 (-)Ensembl
Ensembl Acc Id: ENST00000494183   ⟹   ENSP00000437131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,810,721 - 109,302,367 (-)Ensembl
Ensembl Acc Id: ENST00000505377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,824,174 - 108,832,692 (-)Ensembl
Ensembl Acc Id: ENST00000505591   ⟹   ENSP00000422266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,301,809 - 109,302,657 (-)Ensembl
Ensembl Acc Id: ENST00000512961   ⟹   ENSP00000426841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,813,699 - 108,824,219 (-)Ensembl
Ensembl Acc Id: ENST00000610288   ⟹   ENSP00000482699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,810,721 - 109,050,182 (-)Ensembl
Ensembl Acc Id: ENST00000622134   ⟹   ENSP00000484110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,810,721 - 109,050,182 (-)Ensembl
Ensembl Acc Id: ENST00000642955   ⟹   ENSP00000495847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,808,725 - 109,302,752 (-)Ensembl
RefSeq Acc Id: NM_001256074   ⟹   NP_001243003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,823,844 - 109,302,658 (-)NCBI
GRCh374109,731,877 - 110,223,799 (-)NCBI
HuRef4105,464,237 - 105,956,593 (-)NCBI
CHM1_14109,721,602 - 110,200,159 (-)NCBI
T2T-CHM13v2.04112,125,738 - 112,604,778 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032518   ⟹   NP_115907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,823,844 - 109,302,658 (-)NCBI
GRCh374109,731,877 - 110,223,799 (-)NCBI
Build 364109,964,481 - 110,443,248 (-)NCBI Archive
HuRef4105,464,237 - 105,956,593 (-)NCBI
CHM1_14109,721,602 - 110,200,435 (-)NCBI
T2T-CHM13v2.04112,125,738 - 112,604,778 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198721   ⟹   NP_942014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,302,658 (-)NCBI
GRCh374109,731,877 - 110,223,799 (-)NCBI
Build 364109,954,421 - 110,443,248 (-)NCBI Archive
HuRef4105,464,237 - 105,956,593 (-)NCBI
CHM1_14109,708,453 - 110,200,435 (-)NCBI
T2T-CHM13v2.04112,110,611 - 112,604,778 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045756
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,810,721 - 109,302,658 (-)NCBI
GRCh374109,731,877 - 110,223,799 (-)NCBI
HuRef4105,464,237 - 105,956,593 (-)NCBI
CHM1_14109,708,453 - 110,200,159 (-)NCBI
T2T-CHM13v2.04112,112,603 - 112,604,778 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532333   ⟹   XP_011530635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,302,658 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532334   ⟹   XP_011530636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,302,658 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532335   ⟹   XP_011530637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,302,658 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532355   ⟹   XP_011530657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,212,355 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532356   ⟹   XP_011530658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,212,355 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532358   ⟹   XP_011530660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 108,966,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008737   ⟹   XP_016864226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,808,725 - 109,222,067 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351101   ⟹   XP_054207076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,604,854 (-)NCBI
RefSeq Acc Id: XM_054351102   ⟹   XP_054207077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,604,778 (-)NCBI
RefSeq Acc Id: XM_054351103   ⟹   XP_054207078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,604,870 (-)NCBI
RefSeq Acc Id: XM_054351104   ⟹   XP_054207079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,524,194 (-)NCBI
RefSeq Acc Id: XM_054351105   ⟹   XP_054207080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,524,194 (-)NCBI
RefSeq Acc Id: XM_054351106   ⟹   XP_054207081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,524,194 (-)NCBI
RefSeq Acc Id: XM_054351107   ⟹   XP_054207082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04112,110,611 - 112,268,595 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001243003 (Get FASTA)   NCBI Sequence Viewer  
  NP_115907 (Get FASTA)   NCBI Sequence Viewer  
  NP_942014 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530635 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530636 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530637 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530657 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530658 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530660 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207082 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36669 (Get FASTA)   NCBI Sequence Viewer  
  AAK35008 (Get FASTA)   NCBI Sequence Viewer  
  AAK35009 (Get FASTA)   NCBI Sequence Viewer  
  AAY40947 (Get FASTA)   NCBI Sequence Viewer  
  EAX06238 (Get FASTA)   NCBI Sequence Viewer  
  EAX06239 (Get FASTA)   NCBI Sequence Viewer  
  EAX06240 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382077
  ENSP00000382077.1
  ENSP00000382078
  ENSP00000382078.1
  ENSP00000382083
  ENSP00000382083.1
  ENSP00000422266.1
  ENSP00000426841.1
  ENSP00000437131.1
  ENSP00000495847
  ENSP00000495847.1
GenBank Protein Q9BXS0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_942014   ⟸   NM_198721
- Peptide Label: isoform 1
- UniProtKB: A8MPZ6 (UniProtKB/Swiss-Prot),   Q9BXR9 (UniProtKB/Swiss-Prot),   Q9BXS0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115907   ⟸   NM_032518
- Peptide Label: isoform 2
- UniProtKB: Q9BXS0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243003   ⟸   NM_001256074
- Peptide Label: isoform 3
- UniProtKB: A8MWQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530637   ⟸   XM_011532335
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y760 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530636   ⟸   XM_011532334
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y760 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530635   ⟸   XM_011532333
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y760 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530658   ⟸   XM_011532356
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011530657   ⟸   XM_011532355
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530660   ⟸   XM_011532358
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016864226   ⟸   XM_017008737
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000382077   ⟸   ENST00000399126
Ensembl Acc Id: ENSP00000382078   ⟸   ENST00000399127
Ensembl Acc Id: ENSP00000382083   ⟸   ENST00000399132
Ensembl Acc Id: ENSP00000484110   ⟸   ENST00000622134
Ensembl Acc Id: ENSP00000422266   ⟸   ENST00000505591
Ensembl Acc Id: ENSP00000482699   ⟸   ENST00000610288
Ensembl Acc Id: ENSP00000437131   ⟸   ENST00000494183
Ensembl Acc Id: ENSP00000495847   ⟸   ENST00000642955
Ensembl Acc Id: ENSP00000426841   ⟸   ENST00000512961
RefSeq Acc Id: XP_054207078   ⟸   XM_054351103
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y760 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207076   ⟸   XM_054351101
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y760 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207077   ⟸   XM_054351102
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y760 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207080   ⟸   XM_054351105
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207081   ⟸   XM_054351106
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207079   ⟸   XM_054351104
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207082   ⟸   XM_054351107
- Peptide Label: isoform X4
Protein Domains
Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXS0-F1-model_v2 AlphaFold Q9BXS0 1-654 view protein structure

Promoters
RGD ID:6802137
Promoter ID:HG_KWN:48892
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:ENST00000333642,   ENST00000399126,   ENST00000399127,   ENST00000399129,   ENST00000399132,   ENST00000401873,   NM_032518,   OTTHUMT00000315941,   UC003HZE.1,   UC003HZH.1,   UC010IMD.1,   UC010IME.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364110,443,231 - 110,443,782 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18603 AgrOrtholog
COSMIC COL25A1 COSMIC
Ensembl Genes ENSG00000188517 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399126 ENTREZGENE
  ENST00000399126.1 UniProtKB/Swiss-Prot
  ENST00000399127 ENTREZGENE
  ENST00000399127.5 UniProtKB/TrEMBL
  ENST00000399132 ENTREZGENE
  ENST00000399132.6 UniProtKB/Swiss-Prot
  ENST00000494183 ENTREZGENE
  ENST00000494183.5 UniProtKB/TrEMBL
  ENST00000505591.1 UniProtKB/TrEMBL
  ENST00000512961.5 UniProtKB/TrEMBL
  ENST00000642955 ENTREZGENE
  ENST00000642955.1 UniProtKB/TrEMBL
GTEx ENSG00000188517 GTEx
HGNC ID HGNC:18603 ENTREZGENE
Human Proteome Map COL25A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_Structural_Proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84570 UniProtKB/Swiss-Prot
NCBI Gene 84570 ENTREZGENE
OMIM 610004 OMIM
PANTHER COLLAGEN ALPHA-1(XXV) CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SI:CH211-266K2.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134912284 PharmGKB
UniProt A0A2R8Y760 ENTREZGENE, UniProtKB/TrEMBL
  A8MPZ6 ENTREZGENE
  A8MWQ5 ENTREZGENE, UniProtKB/TrEMBL
  COPA1_HUMAN UniProtKB/Swiss-Prot
  D6R8Y2_HUMAN UniProtKB/TrEMBL
  E9PNV9_HUMAN UniProtKB/TrEMBL
  H0YAE1_HUMAN UniProtKB/TrEMBL
  Q4W5I4_HUMAN UniProtKB/TrEMBL
  Q8NE08_HUMAN UniProtKB/TrEMBL
  Q9BXR9 ENTREZGENE
  Q9BXS0 ENTREZGENE
UniProt Secondary A8MPZ6 UniProtKB/Swiss-Prot
  Q9BXR9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 COL25A1  collagen type XXV alpha 1 chain    collagen type XXV alpha 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL25A1  collagen type XXV alpha 1    collagen, type XXV, alpha 1  Symbol and/or name change 5135510 APPROVED