AutismKB 2.0

Annotation Detail for SRL


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Basic Information Top
Gene Symbol:SRL ( - )
Gene Full Name: sarcalumenin
Band: 16p13.3
Quick LinksEntrez ID:6345; OMIM: 604992; Uniprot ID:SRCA_HUMAN; ENSEMBL ID: ENSG00000185739; HGNC ID: 11295
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal36 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart7 / 8962678
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth7 / 67052104
muscle11 / 107715102
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_521_PI416573500
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala1.97 ± 1.09
Basal Forebrain1.46 ± 0.19
Basal Part of Pons1.23 ± 0.4
Cerebellar Cortex1.37 ± 0.7
Cerebellar Nuclei1.87 ± 0.71
Claustrum2.37 ± 0.83
Epithalamus1.34 ± 0.58
Frontal Lobe1.41 ± 0.68
Globus Pallidus2.18 ± 0.32
Hypothalamus1.63 ± 0.7
Insula1.47 ± 0.56
Limbic Lobe1.51 ± 0.58
Mesencephalon1.67 ± 0.72
Myelencephalon1.56 ± 0.67
Occipital Lobe1.77 ± 0.63
Parietal Lobe1.5 ± 0.78
Pontine Tegmentum1.6 ± 0.66
Striatum1.68 ± 0.5
Subthalamus1.63 ± 0.64
Temporal Lobe1.39 ± 0.59
Thalamus1.48 ± 0.57
White Matter1.98 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SrlCBCerebellum14.84
23.03
SrlCTXCerebral cortex9.12
6.68
SrlHIPHippocampal region6.87
7.11
SrlHPFHippocampal formation9.14
8.18
SrlHYHypothalamus0.79
0.64
SrlLSXLateral septal complex0.37
0.43
SrlMBMidbrain2.45
3.36
SrlMYMedulla3.94
5.06
SrlOLFOlfactory bulb7.04
5.86
SrlPPons2.37
3.2
SrlPALPallidum0.41
0.33
SrlRHPRetrohippocampal region11.95
9.1
SrlsAMYStriatum-like amygdalar nuclei0.05
0
SrlSTRStriatum1.34
1.43
SrlSTRdStriatum dorsal region1.98
2.2
SrlSTRvStriatum ventral region0.4
0.22
SrlTHThalamus1.72
1.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SRCA_HUMAN_566 14 566 579 STMINYLLGLENTR PRIDE
SRCA_HUMAN_580 22 580 601 YQLYTGAEPTTSEFTVLMHGPK PRIDE
SRCA_HUMAN_604 13 604 616 TIEGIVMAADSAR PRIDE
SRCA_HUMAN_645 13 645 657 VTFVDTPGIIENR PRIDE
SRCA_HUMAN_893 17 893 909 AITQELPGLLGSLGLGK PRIDE
SRCA_HUMAN_910 9 910 918 NPGALNCDK PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018